NEUROLOGIC

TUBEROUS SCLEROSIS 2, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, RHEUMATOID ARTHRITIS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, LEOPARD SYNDROME 1, {CELIAC DISEASE, SUSCEPTIBILITY TO}

PDCD1, HLA-DQB1, IFNG, HLA-DRB1, B2M, HLA-DQA1, PTPN11

ADAMS-OLIVER SYNDROME 5, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, IMAGE SYNDROME, CAMURATI-ENGELMANN DISEASE, BECKWITH-WIEDEMANN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, MICROPHTHALMIA, SYNDROMIC 6, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, DIAPHANOSPONDYLODYSOSTOSIS, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, STIFF SKIN SYNDROME, CHONDRODYSPLASIA, GREBE TYPE, MARFAN LIPODYSTROPHY SYNDROME, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, ALAGILLE SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, LOEYS-DIETZ SYNDROME 2, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, WEILL-MARCHESANI SYNDROME 2, DOMINANT, LOEYS-DIETZ SYNDROME 4, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY

GDF5, ITGB3, FBLN5, PLAU, SMAD4, TGFB1, NOTCH1, TGFB3, TGFB2, LTBP2, BMP4, FBN2, CDKN1C, FBN1, COL1A1, TGFBR1, COL1A2, UBQLN2, EFEMP2, BMPER, JAG1, ATN1, IGF1, ACVR1, TGFBR2

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, GLYCOGEN STORAGE DISEASE IV, HUNTINGTON DISEASE, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, POLYGLUCOSAN BODY DISEASE, ADULT FORM, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, CLEFT PALATE, ISOLATED, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, GLYCOGEN STORAGE DISEASE II, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, FRUCTOSE INTOLERANCE, GLYCOGEN STORAGE DISEASE IXC, GLYCOGEN STORAGE DISEASE, TYPE IXA1, GLYCOGEN STORAGE DISEASE, TYPE IXA2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, GLYCOGEN STORAGE DISEASE 0, LIVER, GLUCOCORTICOID RESISTANCE, MYHRE SYNDROME, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, IMMUNODEFICIENCY 8, ?SPINOCEREBELLAR ATAXIA 26, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CITRULLINEMIA, ADULT-ONSET TYPE II, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, GLYCOGEN STORAGE DISEASE 0, MUSCLE, EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), PYRUVATE CARBOXYLASE DEFICIENCY, OPSISMODYSPLASIA, GLYCOGEN STORAGE DISEASE XII, HYPOMYELINATION, GLOBAL CEREBRAL, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY

CALM1, ALDOA, CORO1A, GBE1, ALDOB, PPP2R5D, PRKACA, SMAD4, PHKA2, NR3C1, PGK1, PHKG2, GYS1, EEF2, PCK1, GPI, NHLRC1, PPP2R1A, INPPL1, UBB, EPM2A, SLC25A1, HTT, SLC25A13, TUBG1, GYS2, HK1, FBP1, SLC25A12, TPI1, GAA, SPATA5, INS, PC, GCK

BARAITSER-WINTER SYNDROME 1, LOEYS-DIETZ SYNDROME 5, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, POLYCYTHEMIA VERA, SOMATIC, ANGIOEDEMA, HEREDITARY, TYPES I AND II, CAMURATI-ENGELMANN DISEASE, AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMORAL DEMENTIA, OTOPALATODIGITAL SYNDROME, TYPE II, HOLOPROSENCEPHALY-3, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, ?DYSTONIA, JUVENILE-ONSET, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MELNICK-NEEDLES SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, GLANZMANN THROMBASTHENIA, MYOPATHY, DISTAL, 4, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, KRABBE DISEASE, ATYPICAL, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, TANGIER DISEASE, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, AMYLOIDOSIS, FINNISH TYPE, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, FRAXE, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, FACTOR XIIIA DEFICIENCY, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, TUBEROUS SCLEROSIS 2, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, COMBINED SAP DEFICIENCY, GALACTOSIALIDOSIS, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE XVII, MYOPATHY, MYOFIBRILLAR, 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, HETEROTOPIA, PERIVENTRICULAR, DANON DISEASE, LOEYS-DIETZ SYNDROME 4, SPINOCEREBELLAR ATAXIA 17, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, CHOROID PLEXUS PAPILLOMA, GLYCOGEN STORAGE DISEASE XII, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, PROTEUS SYNDROME, SOMATIC

CALM1, ACTA1, SOD1, ACTB, ITGB3, SHH, LAMP2, PSAP, APOA1, SERPINA1, F5, FLNC, IGF2, TGFB1, FLNA, NOS3, CTCF, HSPG2, TGFB3, TGFB2, AGT, TUBA4A, CTSA, PLG, ITGA2B, SOX2, FGA, ALDOA, IGF1R, ERBB3, JAK2, SPARC, APP, TBP, F2, TP53, A2M, AKT1, TTN, IFNG, SERPING1, F13A1, IGF1, ALB, GSN, PDGFB, INS, PIK3R1

BARAITSER-WINTER SYNDROME 1, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, SPINOCEREBELLAR ATAXIA 5, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ACHONDROPLASIA, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, CAMURATI-ENGELMANN DISEASE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, TRIGONOCEPHALY 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, CORPUS CALLOSUM, PARTIAL AGENESIS OF, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, SPINOCEREBELLAR ATAXIA 15, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CRANIOFRONTONASAL DYSPLASIA, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, PARKINSON DISEASE 1, CATSHL SYNDROME, NEUROFIBROMATOSIS, TYPE 1, NOONAN SYNDROME 9, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, SHORT SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, RHEUMATOID ARTHRITIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, ALTERNATING HEMIPLEGIA OF CHILDHOOD, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, AMYLOIDOSIS, FINNISH TYPE, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, OPSISMODYSPLASIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, WAARDENBURG SYNDROME, TYPE 3, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, LEGIUS SYNDROME, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, PARKINSON DISEASE 4, POLYCYTHEMIA VERA, SOMATIC, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, ?DYSTONIA, JUVENILE-ONSET, DUCHENNE MUSCULAR DYSTROPHY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COFFIN-SIRIS SYNDROME 1, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, APERT SYNDROME, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, MUENKE SYNDROME, BECKER MUSCULAR DYSTROPHY, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, WAARDENBURG SYNDROME, TYPE 1, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, BARAITSER-WINTER SYNDROME 2, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, HYPOCHONDROPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, ROBINOW SYNDROME, MENTAL RETARDATION, X-LINKED 19, CHOROID PLEXUS PAPILLOMA, CLOVE SYNDROME, SOMATIC, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, AMYOTROPHIC LATERAL SCLEROSIS 19, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, NOONAN SYNDROME 7, CROUZON SYNDROME, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, NEUROCUTANEOUS MELANOSIS, SOMATIC, LEOPARD SYNDROME 3, MASA SYNDROME, CRASH SYNDROME, ALEXANDER DISEASE, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, LEOPARD SYNDROME 1, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?MYOPATHY, SCAPULOHUMEROPERONEAL, AU-KLINE SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, F2, SPRY4, WNT5A, HSPB1, ACTB, AGT, GFAP, ATP1A2, SNCA, ITGA2B, UBE2A, IL17RD, FGA, PLAU, B2M, CDKN2A, FGF3, NF1, RAB7A, SPTAN1, PIK3CA, BMP4, PDGFRB, IL2RG, CTNNB1, SF3B4, MUSK, ACTA1, ACE, PLEC, ERBB3, IL10, MAP2K2, PSMB8, IGF2, NOS3, MTOR, FGFR1, LEP, FGF17, JAK2, CBL, SMARCE1, CCND1, PTH, SPRED1, ITPR1, PCNA, GRIN2A, RPS6KA3, GLUD1, DUSP6, BRAF, INS, DMD, SOS2, GRIN2B, ITGB3, GJA1, SHOC2, SMAD4, SYNGAP1, PAX2, HLA-DRB1, NFKB2, PPP2R1A, HES7, FGF20, PLK4, AKT1, CCND2, KRAS, INPPL1, VCP, KARS, NEFL, HNRNPK, EZH2, CSNK1D, UBQLN2, KCNQ2, EFNB1, AKAP9, ERBB4, FGFR3, GSN, RUNX2, NRAS, NGF, UBB, PPP2R5D, PAX3, ACTG1, CSF1R, PIK3R2, NTRK1, PTPN11, JAK3, TGFB1, DISC1, NOTCH1, PDGFB, SOS1, TP53, FGFR2, PDGFRA, L1CAM, BDNF, APP, SPTBN2, HRAS, HSPG2, ESR1, PIK3R1, SHH

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, CAMURATI-ENGELMANN DISEASE, OTOPALATODIGITAL SYNDROME, TYPE II, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, WEISSENBACHER-ZWEYMULLER SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOPATHY, DISTAL, 4, MYASTHENIC SYNDROME, CONGENITAL, 19, PORETTI-BOLTSHAUSER SYNDROME, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, LISSENCEPHALY 5, HYPOPARATHYROIDISM FAMILIAL ISOLATED, FRONTOTEMPORAL DEMENTIA, PORENCEPHALY 1, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, DIAPHANOSPONDYLODYSOSTOSIS, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, HOLOPROSENCEPHALY-3, DYSTONIA 27, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, FRONTOMETAPHYSEAL DYSPLASIA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, STIFF SKIN SYNDROME, TUBEROUS SCLEROSIS 2, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, MYOPATHY, MYOFIBRILLAR, 5, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, SYMPHALANGISM, PROXIMAL, 1A, WAARDENBURG SYNDROME, TYPE 4C, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, COLE-CARPENTER SYNDROME 1, KNOBLOCH SYNDROME 1, MARFAN LIPODYSTROPHY SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SED CONGENITA, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MACROCEPHALY/AUTISM SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XIII, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, SPINOCEREBELLAR ATAXIA 17, ALZHEIMER DISEASE, TYPE 4, ROBINOW SYNDROME, CHOROID PLEXUS PAPILLOMA, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, APHASIA, PRIMARY PROGRESSIVE, FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ERYTHROCYTOSIS, FAMILIAL, 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, SMED STRUDWICK TYPE, PORENCEPHALY 2, GLANZMANN THROMBASTHENIA, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, OSTEOGENESIS IMPERFECTA, TYPE XVII, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, PICK DISEASE, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, CEROID LIPOFUSCINOSIS, NEURONAL, 11, HETEROTOPIA, PERIVENTRICULAR, WEILL-MARCHESANI SYNDROME 2, DOMINANT, CEROID LIPOFUSCINOSIS, NEURONAL, 10, PROTEUS SYNDROME, SOMATIC

TUFM, SOX9, COL18A1, LAMB1, APP, LAMA1, NGF, TP53, WNT7A, COL1A1, SMAD4, COL4A1, COL6A2, AR, P4HB, TGFB1, GRN, PSEN1, FLNA, PSEN2, ITGB3, DAG1, COL6A1, TNF, ADAMTS18, TBP, VHL, COL5A1, PTH, PAX2, COL5A2, PLG, NOG, FBN2, FBLN5, SOX10, DNMT1, WNT5A, COL6A3, CCND1, MMP13, IFNG, BMP4, SPARC, TRH, FBN1, FLNC, BMP1, F2, A2M, AKT1, NOTCH1, COL1A2, LRP2, BMPER, COL4A2, COL13A1, PTEN, IGF1, HSPG2, AGT, DDR2, COL2A1, INS, RUNX2, CTSD, COL11A2, SHH

BARAITSER-WINTER SYNDROME 1, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, CAMURATI-ENGELMANN DISEASE, MULTIPLE SULFATASE DEFICIENCY, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, PITUITARY DEPENDENT HYPERCORTISOLISM, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SHORT SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, AMISH INFANTILE EPILEPSY SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, COENZYME Q10 DEFICIENCY, PRIMARY, 6, BLOOM SYNDROME, MELNICK-NEEDLES SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, COLE-CARPENTER SYNDROME 1, COLE-CARPENTER SYNDROME 2, ?SPINOCEREBELLAR ATAXIA 26, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, DYSAUTONOMIA, FAMILIAL, PORENCEPHALY 1, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SALLA DISEASE, AGAMMAGLOBULINEMIA, X-LINKED 1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, PETERS-PLUS SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, PSEUDOHYPOPARATHYROIDISM IA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, ADAMS-OLIVER SYNDROME 5, LEUKODYSTROPHY, HYPOMYELINATING, 11, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, XERODERMA PIGMENTOSUM, GROUP A, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, BOHRING-OPITZ SYNDROME, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, OSTEOGENESIS IMPERFECTA, TYPE III, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), BARAITSER-WINTER SYNDROME 2, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CORNELIA DE LANGE SYNDROME 4, MENTAL RETARDATION, X-LINKED 102, FRONTOMETAPHYSEAL DYSPLASIA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, STRIATONIGRAL DEGENERATION, INFANTILE, CHYLOMICRON RETENTION DISEASE, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, STIFF SKIN SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), LETHAL CONGENITAL CONTRACTURE SYNDROME 1, PRADER-WILLI SYNDROME, TUBEROUS SCLEROSIS 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, GALACTOSIALIDOSIS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, FACTOR VII DEFICIENCY, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, WAARDENBURG SYNDROME, TYPE 4C, RIDDLE SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, LYSYL HYDROXYLASE 3 DEFICIENCY, CHIME SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, KAHRIZI SYNDROME, WEAVER SYNDROME, EVEN-PLUS SYNDROME, CORNELIA DE LANGE SYNDROME 3, CORNELIA DE LANGE SYNDROME 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15, KNOBLOCH SYNDROME 1, NOONAN SYNDROME 4, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, GM1-GANGLIOSIDOSIS, TYPE I, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, OCULOECTODERMAL SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, ALZHEIMER DISEASE-2, MIRROR MOVEMENTS 2, OTOPALATODIGITAL SYNDROME, TYPE I, SPINOCEREBELLAR ATAXIA 1, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, ALAGILLE SYNDROME, WIEDEMANN-STEINER SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7, EHLERS-DANLOS SYNDROME, TYPE VIIC, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, ?HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, IMMUNODEFICIENCY 23, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, METACHROMATIC LEUKODYSTROPHY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42, FACTOR X DEFICIENCY, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, POLYCYSTIC LIVER DISEASE, SIALIC ACID STORAGE DISORDER, INFANTILE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DIAMOND-BLACKFAN ANEMIA 1, MARFAN LIPODYSTROPHY SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, LATERAL MENINGOCELE SYNDROME, ?MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, MYHRE SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, GM1-GANGLIOSIDOSIS, TYPE III, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, HYPOBETALIPOPROTEINEMIA, CONGENITAL DISORDER OF DEGLYCOSYLATION, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, RUBINSTEIN-TAYBI SYNDROME 2, GELEOPHYSIC DYSPLASIA 1, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, EXOSTOSES, MULTIPLE, TYPE 2, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HETEROTOPIA, PERIVENTRICULAR, WEILL-MARCHESANI SYNDROME 2, DOMINANT, AU-KLINE SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, NONAKA MYOPATHY, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, APOE, EZH2, CAV1, PIGV, APOB, NGLY1, PIGW, RAD21, ACTB, PIGT, CTSA, EFTUD2, F2, B3GLCT, PMM2, MGAT2, NOTCH3, ALG3, EIF2B2, BTK, B2M, SLC17A5, ARSE, CDKN2A, ALG1, PIGO, COL1A1, PGAP1, DES, ALG2, PIGL, ST3GAL5, RPS19, JAG1, ATN1, SMAD4, PIGM, PIGG, IKBKAP, RBPJ, SRD5A3, STT3A, KRAS, ERBB3, CBL, DPH1, DPAGT1, P4HB, GNAS, NOS3, TNF, MTOR, PLOD3, MOGS, ALG11, COL1A2, GFPT1, IFNG, PROC, CCND1, ADAMTS10, AAAS, EP300, RAD51, ADAMTS2, ST3GAL3, ACTA2, ALG6, SMC1A, ADAMTSL2, INS, SMC3, ADAMTS18, PIGA, MAN1B1, POLR1C, DDX3X, CTNNB1, IGF1, NUP62, GMPPB, EEF2, NFKB2, ASCC1, COL4A1, HRAS, BRCA1, NDN, AKT1, BIN1, ATXN1, TP53, UBE3A, COQ6, PGM3, ADAMTS13, A2M, PHC1, CSNK1D, DPM2, MPDU1, HSPA9, ARSA, GNE, SEC24D, XRCC4, XPC, DDOST, SOX10, F5, RUNX2, SUMF1, GLE1, DPM1, FLNA, NGF, HNRNPK, MPI, ACTG1, ASXL1, PRKCSH, TGFB1, RFT1, CENPE, ARSB, B4GALT1, EXT2, GLB1, NOTCH1, F7, TUSC3, SOS1, RANBP2, BLM, HERC2, NEU1, GMPPA, FBN1, APP, CTCF, F10, DOLK, DNMT3B, SAR1B, RNF168, HSPG2, ESR1, PDGFB, DHFR, ALG13, PIGN, PIK3R1

?BARDET-BIEDL SYNDROME 18, BARDET-BIEDL SYNDROME 6, BARDET-BIEDL SYNDROME 17, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, BARDET-BIEDL SYNDROME 10, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO}, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER}, [NOVELTY SEEKING PERSONALITY], ?SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE, NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, BARDET-BIEDL SYNDROME 8, BARDET-BIEDL SYNDROME 12, BARDET-BIEDL SYNDROME 4, BARDET-BIEDL SYNDROME 9, BARDET-BIEDL SYNDROME 3, BARDET-BIEDL SYNDROME 5, BARDET-BIEDL SYNDROME 2, BARDET-BIEDL SYNDROME 7

BBS5, BBS12, ARL6, BBS2, DRD4, BBS9, BBIP1, CCT5, BBS7, LZTFL1, BBS4, BBS10, ARL6IP1, MKKS, BBS1, TTC8

SUPRANUCLEAR PALSY, PROGRESSIVE, OTOPALATODIGITAL SYNDROME, TYPE II, ACHONDROPLASIA, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, MIRROR MOVEMENTS 1, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, CARASIL SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, HYPOPARATHYROIDISM FAMILIAL ISOLATED, FRONTOTEMPORAL DEMENTIA, PORENCEPHALY 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, NEUROFIBROMATOSIS, FAMILIAL SPINAL, INSOMNIA, FATAL FAMILIAL, COFFIN-LOWRY SYNDROME, POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, HAJDU-CHENEY SYNDROME, SPINOCEREBELLAR ATAXIA 15, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6}, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, IMMUNODEFICIENCY 44, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, FANCONI-BICKEL SYNDROME, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, CRANIOSYNOSTOSIS 3, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, MIGRAINE, FAMILIAL HEMIPLEGIC, 3, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, MYOPATHY, MYOFIBRILLAR, 5, NEUROFIBROMATOSIS, TYPE 1, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, WAARDENBURG SYNDROME, TYPE 4C, LYSYL HYDROXYLASE 3 DEFICIENCY, CULLER-JONES SYNDROME, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, TIMOTHY SYNDROME, NOONAN SYNDROME 4, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, MIRROR MOVEMENTS 2, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I, LEUKODYSTROPHY, HYPOMYELINATING, 6, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, MUENKE SYNDROME, MYOTONIC DYSTROPHY 2, SEIZURES, BENIGN NEONATAL, TYPE 2, NICOLAIDES-BARAITSER SYNDROME, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, WAARDENBURG SYNDROME, TYPE 1, ABLEPHARON-MACROSTOMIA SYNDROME, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, FRONTONASAL DYSPLASIA 2, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18, TUBEROUS SCLEROSIS-1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, PARKINSON DISEASE 6, EARLY ONSET, MYASTHENIC SYNDROME, CONGENITAL, 16, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, ?DYSTONIA 23, NAIL-PATELLA SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, PEROXISOME BIOGENESIS DISORDER 11B, BARBER-SAY SYNDROME, DICARBOXYLIC AMINOACIDURIA, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, IMMUNODEFICIENCY 8, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, GERSTMANN-STRAUSSLER DISEASE, DEAFNESS, X-LINKED 5, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, GLANZMANN THROMBASTHENIA, DYSTONIA-PARKINSONISM, X-LINKED, ROUSSY-LEVY SYNDROME, MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS, NOONAN SYNDROME 7, CROUZON SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XV, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, CURRARINO SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, MENTAL RETARDATION, X-LINKED 30/47, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, XERODERMA PIGMENTOSUM, GROUP B, HOLOPROSENCEPHALY-5, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, WEILL-MARCHESANI SYNDROME 2, DOMINANT, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, AORTIC ANEURYSM, FAMILIAL THORACIC 4, MENTAL RETARDATION, X-LINKED SYNDROMIC 5, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MELNICK-NEEDLES SYNDROME, PORENCEPHALY 2, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, TREACHER COLLINS SYNDROME 2, COLE-CARPENTER SYNDROME 1, VACTERL ASSOCIATION, X-LINKED, NEUROFIBROMATOSIS-NOONAN SYNDROME, MACHADO-JOSEPH DISEASE, AMYOTROPHIC LATERAL SCLEROSIS 19, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, LISSENCEPHALY 5, LEOPARD SYNDROME 3, HYPOPHOSPHATASIA, INFANTILE, PICK DISEASE, STORMORKEN SYNDROME, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOPSEUDOHYPOPARATHYROIDISM, OSTEOGENESIS IMPERFECTA, TYPE XVII, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, CLEFT PALATE, ISOLATED, INSENSITIVITY TO PAIN, CONGENITAL, HSAN2D, AUTOSOMAL RECESSIVE, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, HEMOCHROMATOSIS, TYPE 2A, ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CORPUS CALLOSUM, PARTIAL AGENESIS OF, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J, HOLOPROSENCEPHALY-9, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, PANCREATIC AND CEREBELLAR AGENESIS, SUBCORTICAL LAMINAL HETEROPIA, X-LINKED, LISSENCEPHALY, X-LINKED, DYSTONIA 27, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, VELOCARDIOFACIAL SYNDROME, NOONAN SYNDROME 9, EPISODIC PAIN SYNDROME, FAMILIAL, 2, AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMORAL DEMENTIA, ?SPINOCEREBELLAR ATAXIA 41, ?EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 5, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, RHEUMATOID ARTHRITIS, STRIATONIGRAL DEGENERATION, INFANTILE, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, AMYLOIDOSIS, FINNISH TYPE, OTOPALATODIGITAL SYNDROME, TYPE I, ALPHA-METHYLACETOACETIC ACIDURIA, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, OPSISMODYSPLASIA, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, RABSON-MENDENHALL SYNDROME, LEGIUS SYNDROME, SEGAWA SYNDROME, RECESSIVE, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, SYMPHALANGISM, PROXIMAL, 1A, GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, ADAMS-OLIVER SYNDROME 5, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, PALLISTER-HALL SYNDROME, KNOBLOCH SYNDROME 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MARFAN LIPODYSTROPHY SYNDROME, DIGEORGE SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION, COLOBOMA, OCULAR, DUCHENNE MUSCULAR DYSTROPHY, ALAGILLE SYNDROME, APERT SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, BECKER MUSCULAR DYSTROPHY, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, HYPOCHONDROPLASIA, SPINOCEREBELLAR ATAXIA 17, ACROCAPITOFEMORAL DYSPLASIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, CEREBELLOFACIODENTAL SYNDROME, FEBRILE SEIZURES, FAMILIAL, 3B, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 7, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, ERYTHROCYTOSIS, FAMILIAL, 2, SECKEL SYNDROME 1, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, HETEROTOPIA, PERIVENTRICULAR, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11, NEUROFIBROMATOSIS, TYPE 2, HYPEREKPLEXIA HEREDITARY, TUMOR PREDISPOSITION SYNDROME, CAPOS SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, FACTOR XIIIA DEFICIENCY, NEUROCUTANEOUS MELANOSIS, SOMATIC, FACIAL PARESIS, HEREDITARY CONGENITAL, 3, XERODERMA PIGMENTOSUM, GROUP D, LEOPARD SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 10, REVESZ SYNDROME, BASAL CELL NEVUS SYNDROME, CAMURATI-ENGELMANN DISEASE, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, ?MENTAL RETARDATION, X-LINKED 100, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, PORETTI-BOLTSHAUSER SYNDROME, DEJERINE-SOTTAS DISEASE, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, LOEYS-DIETZ SYNDROME 2, ALZHEIMER DISEASE, TYPE 4, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D, SADDAN, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, PRION DISEASE WITH PROTRACTED COURSE, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, SPINOCEREBELLAR ATAXIA 21, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), FANCONI ANEMIA, COMPLEMENTATION GROUP A, PAROXYSMAL EXTREME PAIN DISORDER, OSTEOGENESIS IMPERFECTA, TYPE III, CEREBROOCULOFACIOSKELETAL SYNDROME 3, HOLOPROSENCEPHALY-3, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, PARKINSON DISEASE 1, PHELAN-MCDERMID SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, CENTRONUCLEAR MYOPATHY 5, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, STIFF SKIN SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, ROBINOW SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, {KURU, SUSCEPTIBILITY TO}, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, PAPILLORENAL SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, CORNELIA DE LANGE SYNDROME 2, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, COFFIN-SIRIS SYNDROME 4, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, TANGIER DISEASE, ?CHARGE SYNDROME, CHARGE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32, NASU-HAKOLA DISEASE, CORNELIA DE LANGE SYNDROME 1, HOLOPROSENCEPHALY-7, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, KOSAKI OVERGROWTH SYNDROME, OPITZ-KAVEGGIA SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HOLOPROSENCEPHALY 11, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, SMED STRUDWICK TYPE, WATSON SYNDROME, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, OHDO SYNDROME, X-LINKED, MOHR-TRANEBJAERG SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, MASA SYNDROME, CRASH SYNDROME, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, EPISODIC ATAXIA, TYPE 5, SPINOCEREBELLAR ATAXIA 5, FRASER SYNDROME, MULTIPLE SULFATASE DEFICIENCY, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, GLUCOCORTICOID RESISTANCE, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, BARAITSER-WINTER SYNDROME 2, EPISODIC PAIN SYNDROME, FAMILIAL, 3, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS SYNDROME, GILLESPIE SYNDROME, FOCAL CORTICAL DYSPLASIA, TAYLOR BALLOON CELL TYPE, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, {CELIAC DISEASE, SUSCEPTIBILITY TO}, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, MENTAL RETARDATION, X-LINKED 99, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PITT-HOPKINS SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, EPILEPSY, FAMILIAL TEMPORAL LOBE, 1, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, TRIGONOCEPHALY 1, SMITH-LEMLI-OPITZ SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, HUNTINGTON DISEASE, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, TATTON-BROWN-RAHMAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, PERRY SYNDROME, MISMATCH REPAIR CANCER SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, FEINGOLD SYNDROME, RUBINSTEIN-TAYBI SYNDROME, PITUITARY DEPENDENT HYPERCORTISOLISM, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, LUJAN-FRYNS SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, CATSHL SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, COWCHOCK SYNDROME, ADAMS-OLIVER SYNDROME 3, NEPHROTIC SYNDROME, TYPE 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, DYSTONIA-12, ARTHROGRYPOSIS, DISTAL, TYPE 2A, WAARDENBURG SYNDROME, TYPE 3, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B2, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, ?BARDET-BIEDL SYNDROME 11, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, CHOREA, HEREDITARY BENIGN, HUNTINGTON DISEASE-LIKE 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SED CONGENITA, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, MYHRE SYNDROME, MACROCEPHALY/AUTISM SYNDROME, EPISODIC ATAXIA, TYPE 6, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, ERYTHERMALGIA, PRIMARY, SMALL FIBER NEUROPATHY, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, SEIZURES, BENIGN FAMILIAL INFANTILE, 3, LISSENCEPHALY 3, PCWH SYNDROME, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CHOROID PLEXUS PAPILLOMA, MYOPATHY, MYOFIBRILLAR, 6, RENPENNING SYNDROME, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, {DRAVET SYNDROME, MODIFIER OF}, DRAVET SYNDROME, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 2, FEBRILE SEIZURES, FAMILIAL, 3A, DIABETES INSIPIDUS, NEPHROGENIC, ALEXANDER DISEASE, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, HYPOPHOSPHATASIA, CHILDHOOD, CRANIOSYNOSTOSIS, TYPE 1, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, MENTAL RETARDATION, X-LINKED 90, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, WISKOTT-ALDRICH SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, ?COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA, EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, SPINOCEREBELLAR ATAXIA 42, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, ?MYOPATHY, SCAPULOHUMEROPERONEAL, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, SMITH-KINGSMORE SYNDROME

TCF12, CALM1, SCN2A, LAMB1, PLOD3, HSPB1, MPDZ, RTN4R, GNAS, CIITA, GLI3, SCN10A, PAFAH1B1, TRIP4, B2M, LHX3, NOG, EGR2, RAB7A, TRIM32, POR, ATN1, CREBBP, AQP2, SMARCA2, NF2, SCN4A, F13A1, SOX2, APOA1, COL6A2, P4HB, DAG1, MTOR, LAMA1, LEP, FGF17, AIFM1, IL10, SMARCE1, CCND1, JAK2, AP2S1, SPARC, NKX2-1, ITPR1, T, DUSP6, DNMT3A, TGFBR1, CTNNB1, GRIN2A, SMAD4, RAD51, HDAC6, CTDP1, PCK1, PQBP1, NUP62, PPP2R1A, HES7, AKT1, INPPL1, AIP, KCNA2, DIAPH1, HNRNPK, EZH2, TWIST1, CSNK1D, PEX13, EFNB1, IL17RD, PINK1, TUBG1, PIK3R2, PTPN11, SPRY4, SCRIB, COL5A2, COL6A1, PAK3, ANK3, BDNF, GRIN2B, SYNGAP1, LRP2, ATXN3, POLR3B, NR3C1, TSC1, SOS2, ACE, DNM2, WNT5A, TH, ACTB, SEMA3E, PIK3CA, PSEN1, GFAP, ASCC1, ITGA2B, UBE2A, FGA, UBB, SPTAN1, TYROBP, CACNB4, EMD, TIMM8A, IL2RG, RYR2, SF3B4, TGFBR2, SHOC2, BLMH, CNTN2, HOXB1, MAP2K2, NPPA, CYP7B1, NME1, NOTCH1, MYCN, ERCC3, CBS, CORO1A, FGFR1, MEF2C, CFL2, PTH, SPRED1, GDNF, BAP1, GPHN, BRAF, DMD, MC4R, STIM1, COL18A1, ALPL, SHH, SLC2A2, IGF1, TREM2, SMAD9, CTCF, NFKB2, SMC1A, SCN4B, PLEC, VDR, ASCL1, FIBP, ERBB3, TP53, SNCA, KCNQ2, AKAP9, ERBB4, KIF4A, TUBB4A, SCYL1, AR, DLG3, KRT8, PPP2R5D, PAX3, ACTG1, TGFB1, GATA6, IGF1R, SPEG, TUBA4A, CACNA1C, NOTCH2, COL6A3, KARS, LGI1, PCNA, ATP1A3, HSPG2, TNF, ESR1, ATIC, PDE4D, F2, MYH14, MED13L, IGBP1, EFTUD2, MAG, AGT, CDK5, UBQLN2, KMT2A, PLAU, CBL, FGF3, PNPLA2, CACNA1B, BMPER, JAG1, TBK1, GRID2, COL2A1, RBPJ, NF1, ACTA1, DNM1, GRIP1, SMARCA4, TUBB2B, TWIST2, IGF2, NOS3, PTF1A, MAPT, CAD, KIF5A, COL1A2, DCX, PSMB8, LYZ, CACNB2, POLR1D, AP4M1, ERCC5, NR2F1, GSC, AP1S2, RPS6KA3, WAS, VCP, ALX4, INS, CDON, ITGB3, PAX2, LMX1B, HLA-DRB1, FLNA, SYN1, CNTN1, SNTA1, VHL, COL4A1, PLK4, TUBB3, BIN1, MNX1, FBN1, DCTN1, IHH, SCN1A, PTEN, FGFR3, GSN, STAT2, SOX10, NRAS, KCNQ3, STUB1, CSF1R, STXBP1, MED25, JAK3, TBP, NTRK1, ERCC4, ACVR1, TCF4, SOS1, ATM, MED23, TBX1, SLC1A1, CACNA1S, APP, HRAS, OCLN, HTRA1, BAG3, TINF2, PDGFB, CAV1, STX1B, COL1A1, CNBP, MYD88, SEMA3A, SLC1A3, ACAT1, COL5A1, OTX2, PRKAR1A, EIF2B2, BTK, PLG, CDKN2A, CLASP1, SCN8A, BMP4, ERCC2, COL4A2, PDGFRB, ARHGDIA, HLA-DQA1, PTCH1, WNT7A, KRAS, GLI2, TUBA1A, NKX2-5, RYR1, AKT2, CNTNAP1, HS6ST1, HTT, ZIC3, PDGFRA, MPZ, EP300, PSEN2, TAF1, PCBD1, GLUD1, PAX8, RET, KCNJ11, CACNA1G, GJA1, SOX9, MYH3, USP9X, ZIC2, SCN1B, CASR, GCK, CCND2, SCN11A, TUBB2A, PRKDC, MRPL3, BRCA1, DTNBP1, TRPC3, MED12, NEFL, MED17, PAX6, ITCH, MUSK, SHANK3, RUNX2, SUMF1, YAP1, NGF, DHCR7, PRNP, SCN5A, BRF1, CASK, DISC1, PRKACA, INSR, AKT3, SCN9A, MSH2, FGFR2, WNT1, L1CAM, FLNC, SPTBN2, FGF20, DCC, DNMT3B, MYH11, ATR, ANK2, HFE2, CACNA1D, PIK3R1

POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, JOUBERT SYNDROME 10, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, NEPHRONOPHTHISIS 15, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE, AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMORAL DEMENTIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, ALSTROM SYNDROME, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, PERRY SYNDROME, ?SECKEL SYNDROME 4, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, ?SECKEL SYNDROME 6, CORPUS CALLOSUM AGENESIS, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, LISSENCEPHALY 4 (WITH MICROCEPHALY), JOUBERT SYNDROME 5, OROFACIODIGITAL SYNDROME I, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, SECKEL SYNDROME 5, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, LEUKODYSTROPHY, HYPOMYELINATING, 6, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, ?MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE, MECKEL SYNDROME 4, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, JOUBERT SYNDROME 15, SENIOR-LOKEN SYNDROME 6, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, ?MICROHYDRANENCEPHALY, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE, BARDET-BIEDL SYNDROME 16, LISSENCEPHALY 3, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5

NDE1, TUBGCP6, TUBA1A, CEP135, PRKACA, CEP41, CEP63, TUBB, TUBA4A, PPP2R1A, CEP164, SDCCAG8, PLK4, PCNT, CEP57, PAFAH1B1, TUBB2A, TUBB2B, TUBGCP4, OFD1, CEP290, DCTN1, CLASP1, TUBG1, CSNK1D, CDK5RAP2, AKAP9, TUBB3, ALMS1, CEP152, TUBB4A, DYNC1H1, CENPJ

BARDET-BIEDL SYNDROME 10, EVEN-PLUS SYNDROME, BARAITSER-WINTER SYNDROME 1, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, NICOLAIDES-BARAITSER SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, FANCONI ANEMIA, COMPLEMENTATION GROUP A, ALSTROM SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, SENIOR-LOKEN SYNDROME 6, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), ?BARDET-BIEDL SYNDROME 19, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, NEPHRONOPHTHISIS 18, RENAL-HEPATIC-PANCREATIC DYSPLASIA 1, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, MECKEL SYNDROME 2, RITSCHER-SCHINZEL SYNDROME 2, BARDET-BIEDL SYNDROME 6, ?SPINOCEREBELLAR ATAXIA 26, MYOPATHY, DISTAL, 4, ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE, DYSAUTONOMIA, FAMILIAL, BARDET-BIEDL SYNDROME 17, CORNELIA DE LANGE SYNDROME 3, ?SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), BARDET-BIEDL SYNDROME 3, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, KLEEFSTRA SYNDROME, SPINOCEREBELLAR ATAXIA 28, SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY, JOUBERT SYNDROME 24, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, THYROID HORMONE RESISTANCE, RUBINSTEIN-TAYBI SYNDROME, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, BARDET-BIEDL SYNDROME 16, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, ADAMS-OLIVER SYNDROME 3, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, OROFACIODIGITAL SYNDROME IV, ATAXIA-TELANGIECTASIA, LEUKODYSTROPHY, HYPOMYELINATING, 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, BARDET-BIEDL SYNDROME 8, MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, BARDET-BIEDL SYNDROME 4, AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMORAL DEMENTIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, BARDET-BIEDL SYNDROME 7, INCONTINENTIA PIGMENTI, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, SECKEL SYNDROME 1, PERRY SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, JOUBERT SYNDROME 6, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, ?SECKEL SYNDROME 6, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PITUITARY DEPENDENT HYPERCORTISOLISM, MENTAL RETARDATION, X-LINKED 102, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, JOUBERT SYNDROME-3, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, SPINOCEREBELLAR ATAXIA 36, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, ?MECKEL SYNDROME 9, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, EPISODIC PAIN SYNDROME, FAMILIAL, 2, JOUBERT SYNDROME 5, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D, JOUBERT SYNDROME 2, COFFIN-SIRIS SYNDROME 3, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, CITRULLINEMIA, ADULT-ONSET TYPE II, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, ?OROFACIODIGITAL SYNDROME XIV, MECKEL SYNDROME 6, NEPHRONOPHTHISIS 11, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), MECKEL SYNDROME 1, MALOUF SYNDROME, JOUBERT SYNDROME 15, GALACTOSIALIDOSIS, JOUBERT SYNDROME 9, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3, ?MICROHYDRANENCEPHALY, CORPUS CALLOSUM AGENESIS, MYOPATHY, MYOFIBRILLAR, 5, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, CHOROID PLEXUS PAPILLOMA, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, BARDET-BIEDL SYNDROME 13, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, JOUBERT SYNDROME 10, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2, CRANIOECTODERMAL DYSPLASIA 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), COACH SYNDROME, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, GRISCELLI SYNDROME, TYPE 1, ?MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B2, DUCHENNE MUSCULAR DYSTROPHY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, SPINOCEREBELLAR ATAXIA 11, MENTAL RETARDATION, X-LINKED 41, ?JOUBERT SYNDROME 22, OCULOECTODERMAL SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ?BARDET-BIEDL SYNDROME 18, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BARDET-BIEDL SYNDROME 12, COFFIN-SIRIS SYNDROME 4, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?DYSTONIA, JUVENILE-ONSET, MECKEL SYNDROME 7, SECKEL SYNDROME 5, BARDET-BIEDL SYNDROME 9, ALCOHOL DEPENDENCE, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, LEUKODYSTROPHY, HYPOMYELINATING, 6, MUSCULAR DYSTROPHY, CONGENITAL, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, MECKEL SYNDROME 3, MYOTONIC DYSTROPHY 2, ?MYASTHENIC SYNDROME, CONGENITAL, 18, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), BECKER MUSCULAR DYSTROPHY, JOUBERT SYNDROME 8, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, PERRAULT SYNDROME 5, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, JOUBERT SYNDROME 4, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, DARIER DISEASE, IMMUNODEFICIENCY 8, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, {PARKINSON DISEASE 18}, JOUBERT SYNDROME 7, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, ?SECKEL SYNDROME 4, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, LEUKODYSTROPHY, HYPOMYELINATING, 10, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, CRANIOECTODERMAL DYSPLASIA 2, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, SENIOR-LOKEN SYNDROME 8, CARDIOMYOPATHY, DILATED, 1A, JOUBERT SYNDROME 13, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, LISSENCEPHALY 3, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY, NEPHRONOPHTHISIS 15, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, BARDET-BIEDL SYNDROME 5, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, MECKEL SYNDROME 5, ERYTHROCYTOSIS, FAMILIAL, 2, BARDET-BIEDL SYNDROME 2, INFANTILE CEREBELLAR-RETINAL DEGENERATION, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, MECKEL SYNDROME 10, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, MYHRE SYNDROME, LISSENCEPHALY 4 (WITH MICROCEPHALY), OROFACIODIGITAL SYNDROME I, ?MECKEL SYNDROME 8, NOONAN SYNDROME 9, JOUBERT SYNDROME 18, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, MENTAL RETARDATION, X-LINKED 90, MECKEL SYNDROME 4, SENIOR-LOKEN SYNDROME 9, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, HEART-HAND SYNDROME, SLOVENIAN TYPE, DIAMOND-BLACKFAN ANEMIA 7, RUBINSTEIN-TAYBI SYNDROME 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, PALLISTER-HALL SYNDROME, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, CHEDIAK-HIGASHI SYNDROME, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE, RETINITIS PIGMENTOSA 71, MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, PROTEUS SYNDROME, SOMATIC

CALM1, MPDZ, TMEM216, KIF5A, PAFAH1B1, TCTN3, LMNA, TTBK2, LZTFL1, TUBA4A, ACTB, PIGT, IKBKG, GLI3, CTSA, ANK2, EFTUD2, DDX3X, MYO5A, CCT5, UBA1, CEP41, RPGRIP1L, CTNNB1, CDKN2A, BBIP1, DST, NDRG1, PDE6D, CDK5RAP2, SMARCA4, NOP56, FLNC, TTC8, BBS2, AFG3L2, SMAD4, MKS1, CREBBP, PRKAG2, EIF4G1, GNAI2, THRB, SPAST, VRK1, CC2D2A, WDR34, PLEC, TP53, B9D2, TUBA1A, CEP135, TBK1, AR, BBS10, MRPS22, CLUAP1, PAXIP1, BUB1B, CORO1A, EDNRA, MEF2C, LEP, SDCCAG8, GFM1, GFPT1, CEP152, TUBB2B, IKBKAP, NR1I3, MRPS16, C2CD3, SLC25A13, SUCLA2, CCDC22, EP300, MKKS, HSPD1, RBPJ, TUBGCP4, ARL6, BBS9, HCFC1, HTR2A, GLUD1, AHI1, INS, SNAP25, CEP83, ACO2, GDI1, BBS12, APP, LYST, TRAF3IP1, ETFA, SMARCA2, TTC21B, INPP5E, DYNC2H1, CEP290, TSFM, HDAC6, EEF2, CTDP1, DMD, VHL, CEP164, PPP2R1A, TUBB, PYCR2, PLK4, TCTN1, AKT1, AKAP9, NDE1, TUBB2A, NPHP3, BRCA1, MRPL3, SCN10A, SETD1A, KARS, POLG, DCTN1, ARL6IP1, TCTN2, CSNK1D, IFT140, HSPA9, TUBB3, STXBP1, ALMS1, POLG2, TUBB4A, DYNC1H1, CENPJ, CYC1, IFT122, BBS5, DLG3, SMARCB1, MTFMT, BBS7, TUBG1, ATR, NOS3, B9D1, NPHP1, MED25, SCN5A, ANK3, DTNBP1, IFT27, CASK, DISC1, EXOC8, PRKACA, IFT172, PCNT, CEP57, UQCRC2, ATM, BBS1, WDR19, RPL11, THRA, OFD1, CNBP, BBS4, CLASP1, GRIN2B, SMC3, HRAS, TMEM67, ARL13B, POLR3B, ATP2A2, TNF, ESR1, SOS2, C10orf2, CEP63, TUFM, WDR35, ATIC

BARAITSER-WINTER SYNDROME 1, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, SPINOCEREBELLAR ATAXIA 5, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ACHONDROPLASIA, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, BANNAYAN-RILEY-RUVALCABA SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MYHRE SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, TREACHER COLLINS SYNDROME 2, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, ?DYSTONIA, JUVENILE-ONSET, NEUROFIBROMATOSIS-NOONAN SYNDROME, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, CAMURATI-ENGELMANN DISEASE, LEOPARD SYNDROME 3, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, TRIGONOCEPHALY 1, {PARKINSON DISEASE 18}, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, CORPUS CALLOSUM, PARTIAL AGENESIS OF, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, SPINOCEREBELLAR ATAXIA 15, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, IMMUNODEFICIENCY, COMMON VARIABLE, 10, ENDOCRINE-CEREBROOSTEODYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, PARKINSON DISEASE 1, CATSHL SYNDROME, NEUROFIBROMATOSIS, TYPE 1, NOONAN SYNDROME 9, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, BARAITSER-WINTER SYNDROME 2, SHORT SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, RHEUMATOID ARTHRITIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, ALTERNATING HEMIPLEGIA OF CHILDHOOD, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, AMYLOIDOSIS, FINNISH TYPE, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, TUBEROUS SCLEROSIS 2, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, WAARDENBURG SYNDROME, TYPE 3, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, MYOPATHY, MYOFIBRILLAR, 5, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, LEGIUS SYNDROME, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, PARKINSON DISEASE 4, POLYCYTHEMIA VERA, SOMATIC, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, DUCHENNE MUSCULAR DYSTROPHY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COFFIN-SIRIS SYNDROME 1, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, APERT SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MACROCEPHALY/AUTISM SYNDROME, MUENKE SYNDROME, BECKER MUSCULAR DYSTROPHY, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, WAARDENBURG SYNDROME, TYPE 1, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, FOCAL CORTICAL DYSPLASIA, TAYLOR BALLOON CELL TYPE, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, HYPOCHONDROPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, TUBEROUS SCLEROSIS-1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, CHOROID PLEXUS PAPILLOMA, CLOVE SYNDROME, SOMATIC, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, AMYOTROPHIC LATERAL SCLEROSIS 19, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, NOONAN SYNDROME 7, CROUZON SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NEUROCUTANEOUS MELANOSIS, SOMATIC, HYPOPARATHYROIDISM FAMILIAL ISOLATED, MASA SYNDROME, CRASH SYNDROME, ALEXANDER DISEASE, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, LEOPARD SYNDROME 1, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?MYOPATHY, SCAPULOHUMEROPERONEAL, AU-KLINE SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, TSC2, F2, SPRY4, VARS2, STRADA, ACTB, SQSTM1, AGT, GFAP, ATP1A2, SNCA, ITGA2B, GJA1, IL17RD, HNRNPK, FGA, PLAU, UBB, FGF17, CDKN2A, HSPB1, FGF3, NF1, RAB7A, SPTAN1, PIK3CA, BMP4, PDGFRB, PRKAG2, SOX2, IL2RG, SF3B4, PTEN, ACTA1, ACE, PLEC, ERBB3, IL10, MAP2K2, PSMB8, IGF2, NOS3, MTOR, FGFR1, LEP, AKT2, JAK2, EIF4G1, CBL, SMARCE1, CCND1, PTH, SPRED1, ICK, POLR1D, ITPR1, PCNA, GRIN2A, RPS6KA3, GLUD1, DUSP6, BRAF, INS, NFKB2, SOS2, APP, ITGB3, UBE2A, SHOC2, SMAD4, SPTBN2, PAX2, HLA-DRB1, HDAC6, DMD, PPP2R1A, GRIN2B, HES7, FGF20, PLK4, AKT1, CCND2, KRAS, VCP, KARS, NEFL, PPP2R5D, EZH2, CSNK1D, UBQLN2, KCNQ2, EFNB1, AKAP9, ERBB4, FGFR3, MUSK, GSN, RUNX2, NRAS, NGF, STUB1, PAX3, ACTG1, CSF1R, PIK3R2, NTRK1, PTPN11, JAK3, TGFB1, DISC1, TSC1, PRKACA, INSR, NOTCH1, PDGFB, SOS1, TP53, FGFR2, PDGFRA, L1CAM, BDNF, FLNC, SYNGAP1, HRAS, HSPG2, ESR1, PIK3R1, SHH

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, SUPRANUCLEAR PALSY, PROGRESSIVE, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, EPISODIC ATAXIA, TYPE 5, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, ?LICHTENSTEIN-KNORR SYNDROME, FRASER SYNDROME, BECKER MUSCULAR DYSTROPHY, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, GLUTAMINE DEFICIENCY, CONGENITAL, EPILEPSY, PROGRESSIVE MYOCLONIC 7, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, BARTTER SYNDROME, TYPE 2, EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 4, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MIRROR MOVEMENTS 1, PARKINSONISM-DYSTONIA, INFANTILE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, MELNICK-NEEDLES SYNDROME, {EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2}, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, SPINOCEREBELLAR ATAXIA 14, ZIMMERMANN-LABAND SYNDROME 1, DYSTONIA-11, MYOCLONIC, CARDIOFACIOCUTANEOUS SYNDROME, [NOVELTY SEEKING PERSONALITY], CAMURATI-ENGELMANN DISEASE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, LISSENCEPHALY 5, EPILEPSY, NOCTURNAL FRONTAL LOBE, 1, HYPOPARATHYROIDISM FAMILIAL ISOLATED, FRONTOTEMPORAL DEMENTIA, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OTOPALATODIGITAL SYNDROME, TYPE II, EPISODIC ATAXIA/MYOKYMIA SYNDROME, EPISODIC ATAXIA, TYPE 2, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, ALZHEIMER DISEASE, TYPE 4, PSEUDOHYPOPARATHYROIDISM IC, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, PSEUDOHYPOPARATHYROIDISM IA, MYOCLONIC-ATONIC EPILEPSY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, COFFIN-LOWRY SYNDROME, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, HUNTINGTON DISEASE, {PANIC DISORDER, SUSCEPTIBILITY TO}, PSEUDOPSEUDOHYPOPARATHYROIDISM, TIMOTHY SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, OCULODENTODIGITAL DYSPLASIA, PEROXISOME BIOGENESIS DISORDER 2B, HAJDU-CHENEY SYNDROME, SPINOCEREBELLAR ATAXIA 15, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, PITUITARY DEPENDENT HYPERCORTISOLISM, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6}, PARKINSON DISEASE 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, FRONTOMETAPHYSEAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, BRUNNER SYNDROME, TEMPLE-BARAITSER SYNDROME, JOUBERT SYNDROME 5, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, SPINOCEREBELLAR ATAXIA 6, SENIOR-LOKEN SYNDROME 6, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, MYOPATHY, MYOFIBRILLAR, 5, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, SEGAWA SYNDROME, RECESSIVE, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, SPINOCEREBELLAR ATAXIA 13, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {BLEPHAROSPASM, PRIMARY BENIGN}, KEPPEN-LUBINSKY SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ?DYSTONIA 23, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, PARKINSON DISEASE 4, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, NOONAN SYNDROME 4, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, ATAXIA-TELANGIECTASIA, OTOPALATODIGITAL SYNDROME, TYPE I, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, DUCHENNE MUSCULAR DYSTROPHY, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, ALCOHOL DEPENDENCE, SPINOCEREBELLAR ATAXIA 19, CLOVE SYNDROME, SOMATIC, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, EPISODIC ATAXIA, TYPE 6, DYSTONIA 25, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPERPARATHYROIDISM, NEONATAL, ANDERSEN SYNDROME, SEIZURES, BENIGN NEONATAL, TYPE 2, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, DEJERINE-SOTTAS DISEASE, GABA-TRANSAMINASE DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, CHOROID PLEXUS PAPILLOMA, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO}, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER}, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3, FEBRILE SEIZURES, FAMILIAL, 8, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, GALACTOSE EPIMERASE DEFICIENCY, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, POLYCYSTIC LIVER DISEASE, DICARBOXYLIC AMINOACIDURIA, MYOPATHY, DISTAL, 4, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SESAME SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 6, ESCOBAR SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 19, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, HYPEREKPLEXIA, HEREDITARY 1, AUTOSOMAL DOMINANT OR RECESSIVE, NOONAN SYNDROME 7, CEROID LIPOFUSCINOSIS, NEURONAL, 4, PARRY TYPE, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, ?MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MENTAL RETARDATION, X-LINKED 90, MECKEL SYNDROME 4, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, PICK DISEASE, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9, SPINOCEREBELLAR ATAXIA 42, LEOPARD SYNDROME 3, SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, LOEYS-DIETZ SYNDROME 1, HETEROTOPIA, PERIVENTRICULAR, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, LAMB1, PLCB1, DRD4, COL1A1, CHRNG, GNAS, PIK3CA, PSEN1, AP2S1, KRIT1, AGT, KCNJ6, ARHGEF9, SLC6A3, SNCA, KCNH2, CTNNB1, RYR2, KCNA1, SPTAN1, TH, CACNA1B, GABRA2, PRKCG, CACNB4, ADCY6, GNAI2, MAOA, KIF1A, ERBB4, SOX9, CHRND, GRIP1, DRD2, ERBB3, GABRA1, PEX5, SYN2, CHRNA2, DNAJC5, SQSTM1, NOTCH2, GLUL, KCNJ1, DAG1, TNF, CACNA1D, ABAT, KCND3, ALDH2, SLC9A1, KIF5C, CBL, SLC6A4, CCND1, CACNB2, HTT, SUCLA2, TGFBR1, ITPR1, CACNA1A, HCN1, CASR, GAD1, ALDH5A1, STX11, HTR2A, RPS6KA3, GPHN, ADCY5, BRAF, INS, SNAP25, KCNC1, SNTA1, MT-CO1, COMT, GNB4, APP, KCNJ11, CACNA1G, GJA1, CEP290, KLC2, FLNA, SYN1, KCNB1, DMD, KCNJ5, PPP2R1A, GRIN2B, CHRNA1, HRAS, MTOR, NR3C1, AKT1, AKAP9, KCNMA1, GALE, KCNA2, TP53, SEC63, NEFL, CHRNA4, CSNK1D, KCNQ2, STXBP1, MUSK, KCNH1, SLC5A7, GABRG2, GJB1, GRIN2A, AR, DLG3, KCNQ1, NGF, KCNQ3, HCCS, CHRNE, ALB, KCNJ10, TGFB1, AP4M1, ATM, GNAL, CASK, STX1B, ANK2, PRKACA, CACNA1C, KCNJ8, SOS1, DRD5, SLC1A1, ABCC9, CACNA1S, BDNF, FLNC, CHAT, KCNJ2, ABCC8, SLC6A1, DCC, ITGA7, MAPT, KCNC3, SLC1A3, GRIK2, ESR1, HCN4, PIK3R1

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, FRASER SYNDROME, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, SENIOR-LOKEN SYNDROME 6, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, GLUCOCORTICOID RESISTANCE, {EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2}, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SPINOCEREBELLAR ATAXIA 14, DYSTONIA-11, MYOCLONIC, CARDIOFACIOCUTANEOUS SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 19, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, EPILEPSY, NOCTURNAL FRONTAL LOBE, 1, HYPOPARATHYROIDISM FAMILIAL ISOLATED, FRONTOTEMPORAL DEMENTIA, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, ALZHEIMER DISEASE, TYPE 4, PSEUDOHYPOPARATHYROIDISM IC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, PITUITARY ADENOMA, ACTH-SECRETING, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, PSEUDOHYPOPARATHYROIDISM IA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, COFFIN-LOWRY SYNDROME, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, PSEUDOPSEUDOHYPOPARATHYROIDISM, OCULODENTODIGITAL DYSPLASIA, SPINOCEREBELLAR ATAXIA 15, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 4, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, JOUBERT SYNDROME 5, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, {BLEPHAROSPASM, PRIMARY BENIGN}, KEPPEN-LUBINSKY SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, LOEYS-DIETZ SYNDROME 1, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, TIMOTHY SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, DUCHENNE MUSCULAR DYSTROPHY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ALCOHOL DEPENDENCE, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, DYSTONIA 25, HYPERPARATHYROIDISM, NEONATAL, ANDERSEN SYNDROME, BECKER MUSCULAR DYSTROPHY, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO}, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER}, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3, FEBRILE SEIZURES, FAMILIAL, 8, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SESAME SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 6, ESCOBAR SYNDROME, [NOVELTY SEEKING PERSONALITY], ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, HYPEREKPLEXIA, HEREDITARY 1, AUTOSOMAL DOMINANT OR RECESSIVE, NOONAN SYNDROME 7, ?MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MENTAL RETARDATION, X-LINKED 90, MECKEL SYNDROME 4, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, PICK DISEASE, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, LEOPARD SYNDROME 3, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, GNB4, CHRNA4, DLG3, CHRNE, KCNJ6, KCNMA1, GJA1, ERBB3, GRIN2A, GABRA1, CHRND, CEP290, CHRNG, GRIK2, DRD2, PIK3R2, KCNJ10, PSEN1, ADCY6, ATM, ARHGEF9, AP2S1, GRIP1, CASR, GRIN2B, CASK, CHRNA1, PLCB1, ESR1, KCNJ5, CACNA1C, SQSTM1, AP4M1, MTOR, AKT1, AKAP9, NGF, CBL, GABRG2, DRD5, ERBB4, NEFL, GNAS, TGFBR1, ITPR1, KCNJ2, HRAS, GNAL, GABRA2, DAG1, PRKCG, PRKACA, DRD4, MUSK, CHRNA2, NR3C1, RPS6KA3, BRAF, GPHN, ADCY5, GNAI2, CTNNB1, DMD, PIK3R1

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, SUPRANUCLEAR PALSY, PROGRESSIVE, EPISODIC ATAXIA, TYPE 5, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, CAMURATI-ENGELMANN DISEASE, FRASER SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, GLUTAMINE DEFICIENCY, CONGENITAL, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 4, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, PARKINSONISM-DYSTONIA, INFANTILE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, PARKINSON DISEASE 1, {EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2}, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SPINOCEREBELLAR ATAXIA 14, DYSTONIA-11, MYOCLONIC, CARDIOFACIOCUTANEOUS SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 19, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, LISSENCEPHALY 5, EPILEPSY, NOCTURNAL FRONTAL LOBE, 1, LEOPARD SYNDROME 3, ?DYSTONIA 23, FRONTOTEMPORAL DEMENTIA, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, EPISODIC ATAXIA, TYPE 2, ALZHEIMER DISEASE, TYPE 4, PSEUDOHYPOPARATHYROIDISM IC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, PSEUDOHYPOPARATHYROIDISM IA, MYOCLONIC-ATONIC EPILEPSY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, COFFIN-LOWRY SYNDROME, ATAXIA-TELANGIECTASIA, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, PSEUDOPSEUDOHYPOPARATHYROIDISM, TIMOTHY SYNDROME, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, OCULODENTODIGITAL DYSPLASIA, HAJDU-CHENEY SYNDROME, SPINOCEREBELLAR ATAXIA 15, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, PITUITARY DEPENDENT HYPERCORTISOLISM, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6}, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, BRUNNER SYNDROME, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, JOUBERT SYNDROME 5, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, SPINOCEREBELLAR ATAXIA 6, SENIOR-LOKEN SYNDROME 6, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {BLEPHAROSPASM, PRIMARY BENIGN}, KEPPEN-LUBINSKY SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, LOEYS-DIETZ SYNDROME 1, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, PARKINSON DISEASE 4, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, CEROID LIPOFUSCINOSIS, NEURONAL, 4, PARRY TYPE, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, HUNTINGTON DISEASE, DUCHENNE MUSCULAR DYSTROPHY, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, ALCOHOL DEPENDENCE, CLOVE SYNDROME, SOMATIC, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, EPISODIC ATAXIA, TYPE 6, DYSTONIA 25, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPERPARATHYROIDISM, NEONATAL, ANDERSEN SYNDROME, BECKER MUSCULAR DYSTROPHY, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, GABA-TRANSAMINASE DEFICIENCY, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, CHOROID PLEXUS PAPILLOMA, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO}, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER}, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3, FEBRILE SEIZURES, FAMILIAL, 8, GALACTOSE EPIMERASE DEFICIENCY, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, DICARBOXYLIC AMINOACIDURIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SESAME SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 6, ESCOBAR SYNDROME, [NOVELTY SEEKING PERSONALITY], {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, {PANIC DISORDER, SUSCEPTIBILITY TO}, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, HYPEREKPLEXIA, HEREDITARY 1, AUTOSOMAL DOMINANT OR RECESSIVE, NOONAN SYNDROME 7, ?MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MENTAL RETARDATION, X-LINKED 90, MECKEL SYNDROME 4, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, PICK DISEASE, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9, SPINOCEREBELLAR ATAXIA 42, HYPOPARATHYROIDISM FAMILIAL ISOLATED, SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, LAMB1, STX1B, DRD4, CHRNG, GNAS, PIK3CA, PSEN1, AP2S1, SLC1A3, AGT, KCNJ6, ARHGEF9, SLC6A3, CSNK1D, CTNNB1, ERBB4, CACNA1B, GABRA2, CACNB4, CHRNA2, GNAI2, MAOA, KIF1A, MUSK, CHRND, GRIP1, DRD2, ERBB3, GABRA1, SYN2, ADCY6, DNAJC5, SQSTM1, NOTCH2, GLUL, DAG1, TNF, CACNA1D, ABAT, CBL, SLC6A4, CACNB2, HTT, TGFBR1, ITPR1, CACNA1A, SYN1, GAD1, ALDH5A1, HTR2A, RPS6KA3, GPHN, ADCY5, BRAF, SNAP25, ALDH2, COMT, GNB4, GRIN2B, CACNA1G, GJA1, CEP290, KLC2, CASR, DMD, KCNJ5, PPP2R1A, CHRNA1, HRAS, AKT1, AKAP9, KCNMA1, GALE, TP53, NEFL, CHRNA4, GRIK2, SNTA1, SNCA, PRKCG, STXBP1, SLC5A7, GABRG2, GRIN2A, DLG3, CHRNE, NGF, HCCS, ALB, KCNJ10, TGFB1, AP4M1, ATM, GNAL, CASK, PLCB1, PRKACA, CACNA1C, DRD5, SLC1A1, BDNF, APP, CHAT, KCNJ2, SLC6A1, ITGA7, MAPT, NR3C1, ESR1, MTOR, PIK3R1

LOEYS-DIETZ SYNDROME 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CLEFT PALATE, ISOLATED, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, INCONTINENTIA PIGMENTI, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SHORT SYNDROME, ?IMMUNODEFICIENCY 37, BANNAYAN-RILEY-RUVALCABA SYNDROME, GLUCOCORTICOID RESISTANCE, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, BARAITSER-WINTER SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CLOVE SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MACROCEPHALY/AUTISM SYNDROME, RHEUMATOID ARTHRITIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, WISKOTT-ALDRICH SYNDROME, MENTAL RETARDATION, X-LINKED 30/47, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {CELIAC DISEASE, SUSCEPTIBILITY TO}, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, RABSON-MENDENHALL SYNDROME, LEOPARD SYNDROME 1, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?MYOPATHY, SCAPULOHUMEROPERONEAL, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PROTEUS SYNDROME, SOMATIC

ACTA1, CBL, ACTG1, NR3C1, PIK3R2, BCL10, PTPN11, HLA-DRB1, IKBKG, WAS, INSR, AKT1, B2M, PAK3, HLA-DQB1, PCNA, TGFBR1, PIK3CA, ITCH, UBB, PTEN, TBK1, ESR1, HLA-DQA1, PIK3R1

MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, SUPRANUCLEAR PALSY, PROGRESSIVE, HUNTINGTON DISEASE, CHOROID PLEXUS PAPILLOMA, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, CAMURATI-ENGELMANN DISEASE, CEROID LIPOFUSCINOSIS, NEURONAL, 4, PARRY TYPE, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, GABA-TRANSAMINASE DEFICIENCY, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, OCULODENTODIGITAL DYSPLASIA, HAJDU-CHENEY SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, PARKINSONISM-DYSTONIA, INFANTILE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, BRUNNER SYNDROME, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, EPISODIC ATAXIA, TYPE 6, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA, ?MYASTHENIC SYNDROME, CONGENITAL, 18, FRONTOTEMPORAL DEMENTIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, PICK DISEASE, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, PARKINSON DISEASE, JUVENILE, TYPE 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9, DICARBOXYLIC AMINOACIDURIA, SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, MYOCLONIC-ATONIC EPILEPSY, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PROTEUS SYNDROME, SOMATIC

CALM1, GJA1, ERBB3, HCCS, SYN2, DNAJC5, TGFB1, NOTCH2, SYN1, MAPT, AGT, ABAT, STX1B, SLC6A3, AKT1, NGF, SLC5A7, PARK2, TP53, HTT, BDNF, APP, CHAT, MAOA, SLC6A1, SLC1A1, SLC1A3, GAD1, ALDH5A1, STXBP1, SLC6A4, SNAP25, CASK, PIK3R1

PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, PARAGANGLIOMAS 3, FUMARASE DEFICIENCY, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, INFANTILE CEREBELLAR-RETINAL DEGENERATION, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, PARAGANGLIOMAS 4, D-2-HYDROXYGLUTARIC ACIDURIA, MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, ?CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7, GLUCOCORTICOID DEFICIENCY 4, L-2-HYDROXYGLUTARIC ACIDURIA, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY

SDHD, PDK3, SDHA, PDHA1, PDHX, SDHB, SDHC, D2HGDH, NNT, VDR, SLC16A1, SUCLG1, PDP1, L2HGDH, FH, MPC1, SUCLA2, DLAT, EP300, KIF11, ACO2, OGDH, DLD, ESR1

BARAITSER-WINTER SYNDROME 1, SPINOCEREBELLAR ATAXIA 5, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, AORTIC ANEURYSM, FAMILIAL THORACIC 4, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, ACHONDROPLASIA, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, THANATOPHORIC DYSPLASIA, TYPE I, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, DONNAI-BARROW SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, EPISODIC PAIN SYNDROME, FAMILIAL, 3, MYOTUBULAR MYOPATHY, X-LINKED, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, PORETTI-BOLTSHAUSER SYNDROME, LISSENCEPHALY 5, SEIZURES, BENIGN FAMILIAL INFANTILE, 3, HYPOPARATHYROIDISM FAMILIAL ISOLATED, MENTAL RETARDATION, X-LINKED 99, TRIGONOCEPHALY 1, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, INSENSITIVITY TO PAIN, CONGENITAL, HSAN2D, AUTOSOMAL RECESSIVE, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, CORPUS CALLOSUM, PARTIAL AGENESIS OF, PAROXYSMAL EXTREME PAIN DISORDER, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, SUBCORTICAL LAMINAL HETEROPIA, X-LINKED, LISSENCEPHALY, X-LINKED, ?MENTAL RETARDATION, X-LINKED 100, CATSHL SYNDROME, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, EPISODIC PAIN SYNDROME, FAMILIAL, 2, AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMORAL DEMENTIA, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, ?EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 5, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, SADDAN, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 3, LISSENCEPHALY 3, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1, POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OSTEOGLOPHONIC DYSPLASIA, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, NOONAN SYNDROME 4, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, LEUKODYSTROPHY, HYPOMYELINATING, 6, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, MUENKE SYNDROME, ERYTHERMALGIA, PRIMARY, SMALL FIBER NEUROPATHY, SEIZURES, BENIGN NEONATAL, TYPE 2, NICOLAIDES-BARAITSER SYNDROME, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, HYPOCHONDROPLASIA, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, MYASTHENIC SYNDROME, CONGENITAL, 16, MENTAL RETARDATION, X-LINKED 19, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, FEBRILE SEIZURES, FAMILIAL, 3B, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 7, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {DRAVET SYNDROME, MODIFIER OF}, DRAVET SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 2, FEBRILE SEIZURES, FAMILIAL, 3A, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, GLANZMANN THROMBASTHENIA, CROUZON SYNDROME, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, MENTAL RETARDATION, X-LINKED 90, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11, ?COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA, EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE, APERT SYNDROME, MASA SYNDROME, CRASH SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, PROTEUS SYNDROME, SOMATIC

CALM1, DNM1, SCN2A, DLG3, TUBA4A, TUBB2B, FGFR3, NGF, CDK5, KCNQ3, SMARCA2, TUBA1A, ACTG1, KIF4A, ACTB, MYD88, NOTCH1, TUBB4A, AP2S1, ITGA2B, LAMB1, CNTN1, LAMA1, USP9X, GRIN2B, SCN8A, PLK4, SCN9A, CNTN2, AKT1, DCX, PAFAH1B1, SCN4A, SCN5A, FGFR2, FGFR1, F2, SCN10A, VCP, PTH, TP53, SCN11A, CLASP1, L1CAM, LRP2, SPTAN1, MAP2K2, DNM2, SCN1A, SPTBN2, SOS1, HRAS, ITGB3, KCNQ2, SCN4B, MYH11, BIN1, ANK3, RPS6KA3, ANK2, TUBB2A, CNTNAP1, TUBB3, CTNNB1, SCN1B

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), CLEFT PALATE, ISOLATED, GM1-GANGLIOSIDOSIS, TYPE I, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), FRUCTOSE INTOLERANCE, MUCOPOLYSACCHARIDOSIS IS, GLYCOGEN STORAGE DISEASE 0, LIVER, MYHRE SYNDROME, MUCOPOLYSACCHARIDOSIS, MPS-III-A, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), GM1-GANGLIOSIDOSIS, TYPE III, MUCOPOLYSACCHARIDOSIS VII, MUCOPOLYSACCHARIDOSIS II, ?CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V, MUCOPOLYSACCHARIDOSIS IH/S, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, GLYCOGEN STORAGE DISEASE 0, MUSCLE, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, MUCOPOLYSACCHARIDOSIS IVA

SGSH, ARSB, EPM2A, NAGLU, GLB1, IDS, GUSB, ALDOB, GYS1, NHLRC1, SMAD4, UBB, GYS2, NEU1, HGSNAT, IDUA, GNS, GALNS

SUPRANUCLEAR PALSY, PROGRESSIVE, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C, OTOPALATODIGITAL SYNDROME, TYPE II, MICROPHTHALMIA, SYNDROMIC 6, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, WOLFRAM SYNDROME, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, PONTOCEREBELLAR HYPOPLASIA, TYPE 1B, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, COLE-CARPENTER SYNDROME 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, DYSAUTONOMIA, FAMILIAL, HYPOPARATHYROIDISM FAMILIAL ISOLATED, FRONTOTEMPORAL DEMENTIA, PORENCEPHALY 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SALLA DISEASE, EXOSTOSES, MULTIPLE, TYPE 1, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, WARSAW BREAKAGE SYNDROME, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, LEUKODYSTROPHY, HYPOMYELINATING, 11, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, BOHRING-OPITZ SYNDROME, JOUBERT SYNDROME 5, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, INCONTINENTIA PIGMENTI, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, SECKEL SYNDROME 1, SPINOCEREBELLAR ATAXIA 15, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, IMMUNODEFICIENCY, COMMON VARIABLE, 10, MENTAL RETARDATION, X-LINKED 102, IMMUNODEFICIENCY 44, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), PRADER-WILLI SYNDROME, HARTNUP DISORDER, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, HAY-WELLS SYNDROME, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, WAARDENBURG SYNDROME, TYPE 4C, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, LYSYL HYDROXYLASE 3 DEFICIENCY, KAHRIZI SYNDROME, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, NOONAN SYNDROME 4, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, MIRROR MOVEMENTS 2, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, WIEDEMANN-STEINER SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 6, EHLERS-DANLOS SYNDROME, TYPE VIIC, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, CARDIOMYOPATHY, DILATED, 1A, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, DEAFNESS, X-LINKED 5, LATERAL MENINGOCELE SYNDROME, GLANZMANN THROMBASTHENIA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29, NOONAN SYNDROME 7, CROUZON SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, XERODERMA PIGMENTOSUM, GROUP B, 2-METHYLBUTYRYLGLYCINURIA, HYPOMYELINATION, GLOBAL CEREBRAL, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, HETEROTOPIA, PERIVENTRICULAR, WEILL-MARCHESANI SYNDROME 2, DOMINANT, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, AORTIC ANEURYSM, FAMILIAL THORACIC 4, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, BARTH SYNDROME, SENIOR-LOKEN SYNDROME 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6, MELNICK-NEEDLES SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, SPINOCEREBELLAR ATAXIA 14, ?SPINOCEREBELLAR ATAXIA 26, AMYOTROPHIC LATERAL SCLEROSIS 19, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, LEOPARD SYNDROME 3, PICK DISEASE, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, MEIER-GORLIN SYNDROME 5, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, ATAXIA-TELANGIECTASIA, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, GM1-GANGLIOSIDOSIS, TYPE I, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, KENNY-CAFFEY SYNDROME, TYPE 1, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMORAL DEMENTIA, COFFIN-SIRIS SYNDROME 3, RHEUMATOID ARTHRITIS, STRIATONIGRAL DEGENERATION, INFANTILE, ACETYL-COA CARBOXYLASE DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, FRAXE, CHIME SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8, MALOUF SYNDROME, HERMANSKY-PUDLAK SYNDROME 2, RABSON-MENDENHALL SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, SEGAWA SYNDROME, RECESSIVE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, COFFIN-LOWRY SYNDROME, RIDDLE SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, ADAMS-OLIVER SYNDROME 5, EVEN-PLUS SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, KNOBLOCH SYNDROME 1, MUSCULAR DYSTROPHY, CONGENITAL, MARFAN LIPODYSTROPHY SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 5, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, SPINOCEREBELLAR ATAXIA 1, NOONAN SYNDROME 10, ALAGILLE SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, ?MYASTHENIC SYNDROME, CONGENITAL, 18, ?HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5, IMMUNODEFICIENCY 23, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, SPINOCEREBELLAR ATAXIA 17, CORNELIA DE LANGE SYNDROME 2, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, EXOSTOSES, MULTIPLE, TYPE 2, POLYCYSTIC LIVER DISEASE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, ASPARAGINE SYNTHETASE DEFICIENCY, ERYTHROCYTOSIS, FAMILIAL, 2, LEUKODYSTROPHY, HYPOMYELINATING, 9, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, 3MC SYNDROME 1, ?PARKINSONISM WITH SPASTICITY, X-LINKED, HYPOBETALIPOPROTEINEMIA, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, HEART-HAND SYNDROME, SLOVENIAN TYPE, TUMOR PREDISPOSITION SYNDROME, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, GRISCELLI SYNDROME, TYPE 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 34, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, XERODERMA PIGMENTOSUM, GROUP D, CEROID LIPOFUSCINOSIS, NEURONAL, 10, REVESZ SYNDROME, CAMURATI-ENGELMANN DISEASE, 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), AMISH INFANTILE EPILEPSY SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET, COENZYME Q10 DEFICIENCY, PRIMARY, 6, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, HMG-COA LYASE DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE III, HOLOPROSENCEPHALY-3, USHER SYNDROME TYPE 3B, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, FRONTOMETAPHYSEAL DYSPLASIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, CHYLOMICRON RETENTION DISEASE, STIFF SKIN SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, FACTOR VII DEFICIENCY, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, LISSENCEPHALY 3, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12, BEARE-STEVENSON CUTIS GYRATA SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, POLYCYTHEMIA VERA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, GRISCELLI SYNDROME, TYPE 1, CORNELIA DE LANGE SYNDROME 3, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, OCULOECTODERMAL SYNDROME, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, COFFIN-SIRIS SYNDROME 4, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, ALCOHOL DEPENDENCE, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MARINESCO-SJOGREN SYNDROME, TANGIER DISEASE, MIRROR MOVEMENTS 1, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, CORNELIA DE LANGE SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, COENZYME Q10 DEFICIENCY, PRIMARY, 1, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, LOEYS-DIETZ SYNDROME 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42, KOSAKI OVERGROWTH SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, SIALIC ACID STORAGE DISORDER, INFANTILE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, BARDET-BIEDL SYNDROME 2, INFANTILE CEREBELLAR-RETINAL DEGENERATION, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, MYHRE SYNDROME, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, {PARKINSON DISEASE 17}, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, CONGENITAL DISORDER OF DEGLYCOSYLATION, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, FEINGOLD SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, GELEOPHYSIC DYSPLASIA 1, MOHR-TRANEBJAERG SYNDROME, APERT SYNDROME, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, {MULTIPLE SYSTEM ATROPHY, SUSCEPTIBILITY TO}, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, ?MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE, MULTIPLE SULFATASE DEFICIENCY, EPILEPSY, PROGRESSIVE MYOCLONIC 6, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, ADENYLOSUCCINASE DEFICIENCY, 3-M SYNDROME 1, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, GLUCOCORTICOID RESISTANCE, COLE-CARPENTER SYNDROME 1, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, BARAITSER-WINTER SYNDROME 2, CARDIOFACIOCUTANEOUS SYNDROME, GILLESPIE SYNDROME, BARDET-BIEDL SYNDROME 3, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, PETERS-PLUS SYNDROME, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, LEUKODYSTROPHY, HYPOMYELINATING, 4, NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, VLCAD DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, TATTON-BROWN-RAHMAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, PERRY SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, PITUITARY DEPENDENT HYPERCORTISOLISM, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, SPINOCEREBELLAR ATAXIA 36, COWCHOCK SYNDROME, ADAMS-OLIVER SYNDROME 3, NEPHROTIC SYNDROME, TYPE 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, CITRULLINEMIA, ADULT-ONSET TYPE II, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, TUBEROUS SCLEROSIS 2, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, GALACTOSIALIDOSIS, FACTOR X DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, BJORNSTAD SYNDROME, WEAVER SYNDROME, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, CHOREA, HEREDITARY BENIGN, CORNELIA DE LANGE SYNDROME 4, ALZHEIMER DISEASE-2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, NIEMANN-PICK DISEASE, TYPE C2, OTOPALATODIGITAL SYNDROME, TYPE I, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, 3-METHYLGLUTACONIC ACIDURIA, TYPE V, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, XERODERMA PIGMENTOSUM, TYPE 1, MACROCEPHALY/AUTISM SYNDROME, HYPERPARATHYROIDISM, NEONATAL, THYROID DYSHORMONOGENESIS 3, PERLMAN SYNDROME, METACHROMATIC LEUKODYSTROPHY, {PARKINSON DISEASE 18}, PCWH SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, CHOROID PLEXUS PAPILLOMA, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, ANGIOEDEMA, HEREDITARY, TYPES I AND II, WOLCOTT-RALLISON SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, ALEXANDER DISEASE, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, GM1-GANGLIOSIDOSIS, TYPE II, DIAMOND-BLACKFAN ANEMIA 1, CEROID LIPOFUSCINOSIS, NEURONAL, 2, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, GM1-GANGLIOSIDOSIS, TYPE III, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MENTAL RETARDATION, X-LINKED 90, MECKEL SYNDROME 4, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15, DIAMOND-BLACKFAN ANEMIA 7, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, ?MYOPATHY, SCAPULOHUMEROPERONEAL, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, SMITH-KINGSMORE SYNDROME, NONAKA MYOPATHY

CALM1, APOE, APP, PLOD3, HSPB1, TSC2, NGLY1, PIGW, GNAS, CIITA, A2M, ADAMTS18, ALG3, CDC6, B2M, SLC17A5, RANBP2, DPM2, RAB7A, ARSE, RPS19, ATN1, CREBBP, SLC6A19, AQP2, ECHS1, ERBB3, AR, P4HB, PAXIP1, MTOR, MGAT2, ALG11, AIFM1, IL10, CCND1, JAK2, AAAS, ITPR1, HSPD1, HTR2A, COL4A3BP, TP63, DNMT3A, SMC3, MAN1B1, TGFBR1, CTNNB1, SERPINC1, SCO2, SMAD4, CEP290, YARS, LEP, CTSD, COLQ, NUP62, PPP2R1A, AKT1, SETD1A, UBE3A, EZH2, KIF11, SOD1, ACTA2, HSPA9, GNE, XRCC4, XPC, PIGN, ASNS, MASP1, HNRNPK, CD59, PIGA, PIGL, PTPN11, GMPPA, RPS26, RARS, STXBP1, MT-CO2, DPM1, B4GALT1, GRIN2B, CTCF, NR3C1, EXOC8, PARK7, APOB, TH, ACTB, COL1A2, B3GLCT, GFAP, CCT5, PGAP1, DES, MBTPS2, BBS2, ARHGDIA, TIMM8A, IKBKAP, CUL7, SF3B4, SHOC2, PLAU, SERPINA1, PIGM, MPI, NOTCH1, MYCN, ERCC3, CBS, EDNRA, EXOSC8, KIF5C, PTH, ADAMTS10, HARS, BAP1, EEF2, FANCA, BRAF, SNAP25, UCHL1, DPH1, IGF1, SMAD9, GMPPB, TAZ, NFKB2, HRAS, HMGCL, NDN, SMC1A, VDR, ATXN1, TP53, PRKCG, SEC24D, TUBB4A, DLG3, KRT8, PPP2R5D, ACTG1, ASXL1, PRKCSH, TGFB1, EIF2AK3, SPTLC1, TUBA4A, ZBTB16, PLG, BLM, DNMT1, EXOSC3, PCNA, POLR1C, DHFR, VPS35, EPOR, HSPG2, ESR1, LMNA, F2, PAFAH1B1, ADSL, RAD21, F7, IKBKG, CTSA, EFTUD2, CAV1, AGT, PMM2, TAF6, CDK5, CBL, ALG1, NOP56, ST3GAL5, JAG1, ABCA1, SERPING1, RBPJ, ERBB4, ACTA1, F5, SMARCA4, STT3A, LZTR1, IGF2, NOS3, PARN, MAPT, TNF, KIF5A, MOGS, GFPT1, PROC, SLC25A13, EEF1A2, NR2F1, FKBP14, ADAMTS2, ST3GAL3, TSHB, ALG6, NKX2-1, RPS6KA3, ACVR1, INS, PAM16, HAX1, DIS3L2, DDX3X, TNPO3, HSD17B10, EXT1, TXN2, VHL, ASCC1, BCS1L, ARL6, TG, PLK4, PHC1, TUBB3, BIN1, ACACA, FBN1, DCTN1, ADAMTS13, PIGO, TSHR, ACADSB, PTEN, STAT2, BTK, EIF2B5, SSR4, TUBB2B, SMARCB1, EIF2B1, RFT1, CENPE, TBP, AP3B1, ADAMTSL2, SOS1, HERC2, ATP6AP2, STX11, TRH, PIGV, F10, COQ6, SLC25A12, TINF2, TUFM, ALG13, PDGFB, TPP1, CP, COL1A1, DNAJC19, TBCE, SRD5A3, PIGT, MYD88, ITGB3, RAB27A, MYO5A, ARHGEF9, EIF2B2, SOX10, CDKN2A, NEU1, ALG2, BMP4, ERCC2, PDGFRB, GNAI2, WFS1, PIGG, DNMT3B, ACE, SDHD, KRAS, PAX6, EIF2B4, ARSA, AKT2, ARFGEF2, EIF4G1, DDX11, SLC6A4, IFNG, TUBG1, EP300, RAD51, MAX, CLPB, NOTCH3, PCBD1, HCFC1, ACADVL, GJA1, COL4A1, RPS28, MC2R, CASR, PMPCA, TUBB2A, PRKDC, BRCA1, DTNBP1, SEC63, DOLK, PGM3, SLC25A4, TUBA1A, CCL2, ARSB, MPDU1, SIL1, ACADM, NPC2, DDOST, RUNX2, SUMF1, SAR1B, GLE1, FLNA, NGF, COQ2, RNF168, PDHA1, ATM, GLB1, IRF3, DISC1, EXT2, FXN, INSR, TUSC3, EIF2B3, FGFR2, PACS1, RPL11, ATP5A1, DPAGT1, DCC, ACO2, DNAJC3, CYC1, MYH11, ATR, GOSR2, SHH, HFE, PIK3R1

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, METHYLMALONIC ACIDURIA CBLB TYPE, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, TRANSCOBALAMIN II DEFICIENCY, DONNAI-BARROW SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), ATAXIA, SPASTIC, 4, AUTOSOMAL RECESSIVE, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, METHYLMALONIC ACIDURIA, MUT(0) TYPE, MITOCHONDRIAL RECESSIVE ATAXIA SYNDROME (INCLUDES SANDO AND SCAE), MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, INTRINSIC FACTOR DEFICIENCY, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, PERRAULT SYNDROME 5, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLD TYPE, HOMOCYSTINURIA, CBLD TYPE, VARIANT 1, METHYLMALONIC ACIDURIA, CBLD TYPE, VARIANT 2, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE

AMN, LRP2, MTPAP, MMADHC, MTR, MUT, MMAA, CBL, MMAB, GIF, STAMBP, LMBRD1, C10orf2, MTRR, ABCD4, CUBN, MMACHC, TCN2

BARAITSER-WINTER SYNDROME 1, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, SPINOCEREBELLAR ATAXIA 5, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ACHONDROPLASIA, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, SPINOCEREBELLAR ATAXIA 14, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, CAMURATI-ENGELMANN DISEASE, LEOPARD SYNDROME 3, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), PSEUDOHYPOPARATHYROIDISM IC, TRIGONOCEPHALY 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, PSEUDOHYPOPARATHYROIDISM IA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 11, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, PSEUDOPSEUDOHYPOPARATHYROIDISM, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, AMYOTROPHIC LATERAL SCLEROSIS 19, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, SPINOCEREBELLAR ATAXIA 15, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, GLANZMANN THROMBASTHENIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, CRANIOFRONTONASAL DYSPLASIA, PITUITARY DEPENDENT HYPERCORTISOLISM, PARKINSON DISEASE 1, CATSHL SYNDROME, NEUROFIBROMATOSIS, TYPE 1, NOONAN SYNDROME 9, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, BARAITSER-WINTER SYNDROME 2, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ANGELMAN SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, RHEUMATOID ARTHRITIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, ALTERNATING HEMIPLEGIA OF CHILDHOOD, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, AMYLOIDOSIS, FINNISH TYPE, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, TUBEROUS SCLEROSIS 2, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, WAARDENBURG SYNDROME, TYPE 3, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, LEGIUS SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, PARKINSON DISEASE 4, POLYCYTHEMIA VERA, SOMATIC, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, HYPERTENSION AND BRACHYDACTYLY SYNDROME, CORPUS CALLOSUM, PARTIAL AGENESIS OF, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COFFIN-SIRIS SYNDROME 1, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, APERT SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, MYHRE SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, MUENKE SYNDROME, TANGIER DISEASE, BECKER MUSCULAR DYSTROPHY, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, WAARDENBURG SYNDROME, TYPE 1, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, FOCAL CORTICAL DYSPLASIA, TAYLOR BALLOON CELL TYPE, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, HYPOCHONDROPLASIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, TUBEROUS SCLEROSIS-1, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, CHOROID PLEXUS PAPILLOMA, CLOVE SYNDROME, SOMATIC, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SMITH-KINGSMORE SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, WATSON SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, SHORT SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, NOONAN SYNDROME 7, CROUZON SYNDROME, MACROCEPHALY/AUTISM SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, X-LINKED 90, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, NEUROFIBROMATOSIS, TYPE 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, HYPOPARATHYROIDISM FAMILIAL ISOLATED, MASA SYNDROME, CRASH SYNDROME, ALEXANDER DISEASE, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, LEOPARD SYNDROME 1, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?MYOPATHY, SCAPULOHUMEROPERONEAL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, TSC2, F2, SPRY4, HSPB1, ACTB, GNAS, ANK2, AGT, GFAP, ATP1A2, PRKAR1A, CSNK1D, ITGA2B, UBE2A, IL17RD, HNRNPK, FGA, PLAU, B2M, FGF17, CDKN2A, FGF3, NF1, RAB7A, SPTAN1, PIK3CA, BMP4, KCNQ2, PDGFRB, ADCY6, GNAI2, IL2RG, DYNC2H1, SF3B4, PTEN, ACTA1, ACE, NF2, PLEC, ERBB3, IL10, MAP2K2, PSMB8, IGF2, SQSTM1, NOTCH1, TNF, MTOR, FGFR1, LEP, AKT2, SPRED1, CBL, SMARCE1, CCND1, PTH, JAK2, PDE3A, ITPR1, T, PCNA, GRIN2A, RPS6KA3, GLUD1, ADCY5, BRAF, INS, NFKB2, SOS2, APP, ITGB3, GJA1, SHOC2, EP300, SMAD4, SPTBN2, PAX2, HLA-DRB1, DMD, PPP2R1A, GRIN2B, HES7, FGF20, PLK4, AKT1, CCND2, KRAS, VCP, APOA1, TP53, UBE3A, NEFL, SLC25A4, PPP2R5D, EZH2, SNCA, UBQLN2, PRKCG, EFNB1, AKAP9, ERBB4, FGFR3, MUSK, GSN, RUNX2, NRAS, DLG3, NGF, UBB, PTS, PAX3, ACTG1, CSF1R, PIK3R2, NTRK1, PTPN11, JAK3, FIBP, TGFB1, DISC1, ESR1, PRKACA, INSR, NOS3, AKT3, PDGFB, SOS1, KARS, FGFR2, DUSP6, PDGFRA, L1CAM, BDNF, CLASP1, POLR1C, SYNGAP1, CTLA4, HRAS, NR3C1, HSPG2, TSC1, PIK3R1, SHH

PERRAULT SYNDROME 5, METHYLMALONIC ACIDURIA CBLB TYPE, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, ATAXIA, SPASTIC, 4, AUTOSOMAL RECESSIVE, DONNAI-BARROW SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), INTRINSIC FACTOR DEFICIENCY, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, METHYLMALONIC ACIDURIA, MUT(0) TYPE, MITOCHONDRIAL RECESSIVE ATAXIA SYNDROME (INCLUDES SANDO AND SCAE), MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLD TYPE, HOMOCYSTINURIA, CBLD TYPE, VARIANT 1, METHYLMALONIC ACIDURIA, CBLD TYPE, VARIANT 2, TRANSCOBALAMIN II DEFICIENCY, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE

AMN, LRP2, MTPAP, MMADHC, MTR, MUT, MMAA, CBL, MMAB, GIF, STAMBP, LMBRD1, C10orf2, MTRR, CUBN, MMACHC, TCN2

BARAITSER-WINTER SYNDROME 1, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, SPINOCEREBELLAR ATAXIA 5, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ACHONDROPLASIA, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, CAMURATI-ENGELMANN DISEASE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, TRIGONOCEPHALY 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, CORPUS CALLOSUM, PARTIAL AGENESIS OF, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, SPINOCEREBELLAR ATAXIA 15, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CRANIOFRONTONASAL DYSPLASIA, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, PARKINSON DISEASE 1, CATSHL SYNDROME, NOONAN SYNDROME 9, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, SHORT SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, RHEUMATOID ARTHRITIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, ALTERNATING HEMIPLEGIA OF CHILDHOOD, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, AMYLOIDOSIS, FINNISH TYPE, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, WAARDENBURG SYNDROME, TYPE 3, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, LEGIUS SYNDROME, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, PARKINSON DISEASE 4, POLYCYTHEMIA VERA, SOMATIC, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, DUCHENNE MUSCULAR DYSTROPHY, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COFFIN-SIRIS SYNDROME 1, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, APERT SYNDROME, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, MUENKE SYNDROME, BECKER MUSCULAR DYSTROPHY, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, WAARDENBURG SYNDROME, TYPE 1, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, BARAITSER-WINTER SYNDROME 2, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, HYPOCHONDROPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, NEUROFIBROMATOSIS, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, CHOROID PLEXUS PAPILLOMA, CLOVE SYNDROME, SOMATIC, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, AMYOTROPHIC LATERAL SCLEROSIS 19, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, NOONAN SYNDROME 7, CROUZON SYNDROME, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, NEUROCUTANEOUS MELANOSIS, SOMATIC, LEOPARD SYNDROME 3, MASA SYNDROME, CRASH SYNDROME, ALEXANDER DISEASE, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, LEOPARD SYNDROME 1, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?MYOPATHY, SCAPULOHUMEROPERONEAL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, F2, SPRY4, HSPB1, ACTB, AGT, GFAP, ATP1A2, SNCA, ITGA2B, UBE2A, IL17RD, FGA, PLAU, UBB, CDKN2A, FGF3, NF1, RAB7A, SPTAN1, PIK3CA, BMP4, PDGFRB, IL2RG, SF3B4, MUSK, ACTA1, ACE, PLEC, ERBB3, CBL, MAP2K2, PSMB8, IGF2, NOS3, TNF, FGFR1, LEP, FGF17, JAK2, IL10, SMARCE1, CCND1, PTH, SPRED1, ITPR1, PCNA, GRIN2A, RPS6KA3, GLUD1, DUSP6, BRAF, INS, DMD, SOS2, GRIN2B, ITGB3, GJA1, SHOC2, SMAD4, SYNGAP1, PAX2, HLA-DRB1, NFKB2, PPP2R1A, HES7, FGF20, PLK4, AKT1, CCND2, KRAS, VCP, KARS, NEFL, HNRNPK, EZH2, CSNK1D, UBQLN2, KCNQ2, EFNB1, AKAP9, ERBB4, FGFR3, GSN, RUNX2, NRAS, NGF, PPP2R5D, PAX3, ACTG1, CSF1R, NTRK1, PTPN11, JAK3, TGFB1, DISC1, NOTCH1, PDGFB, SOS1, TP53, FGFR2, PDGFRA, L1CAM, BDNF, APP, SPTBN2, HRAS, HSPG2, ESR1, PIK3R1, SHH

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, LYSYL HYDROXYLASE 3 DEFICIENCY, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, COLE-CARPENTER SYNDROME 1, PORENCEPHALY 1, CAMURATI-ENGELMANN DISEASE, OSTEOGENESIS IMPERFECTA, TYPE VIII, OSTEOGENESIS IMPERFECTA, TYPE III, HOLOPROSENCEPHALY-3, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, WEISSENBACHER-ZWEYMULLER SYNDROME, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, SMED STRUDWICK TYPE, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, PORENCEPHALY 2, KNOBLOCH SYNDROME 1, ?OSTEOGENESIS IMPERFECTA, TYPE X, SED CONGENITA, EHLERS-DANLOS SYNDROME, TYPE VI, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, CLOVE SYNDROME, SOMATIC, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, EHLERS-DANLOS SYNDROME, TYPE VIIC, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, MYASTHENIC SYNDROME, CONGENITAL, 19, RHEUMATOID ARTHRITIS, OSTEOGENESIS IMPERFECTA, TYPE XIII, HYPOPARATHYROIDISM FAMILIAL ISOLATED, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, CHOROID PLEXUS PAPILLOMA, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PCWH SYNDROME, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, ROBINOW SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, SPINOCEREBELLAR ATAXIA 17, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, SYMPHALANGISM, PROXIMAL, 1A, WAARDENBURG SYNDROME, TYPE 4C, DYSTONIA 27, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PROTEUS SYNDROME, SOMATIC

TUFM, SOX9, APP, FBLN5, TP53, WNT7A, COL1A1, COL4A1, PLEC, P4HB, WNT5A, CIITA, COL5A2, TBP, TNF, TGFB1, COL11A2, PLOD3, COL5A1, PTH, COL1A2, COL6A3, NOG, AKT1, NGF, SOX10, PLOD1, B2M, COL6A1, CCND1, MMP13, DST, BMP4, COL4A2, COL18A1, BMP1, PIK3CA, SERPINH1, COL6A2, ADAMTS2, LRP2, COL13A1, P3H1, DDR2, SHH, COL2A1, INS, RUNX2, PIK3R1

BARAITSER-WINTER SYNDROME 1, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, SPINOCEREBELLAR ATAXIA 5, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ACHONDROPLASIA, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, SPINOCEREBELLAR ATAXIA 14, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, CAMURATI-ENGELMANN DISEASE, LEOPARD SYNDROME 3, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), PSEUDOHYPOPARATHYROIDISM IC, TRIGONOCEPHALY 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, PSEUDOHYPOPARATHYROIDISM IA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 11, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, PSEUDOPSEUDOHYPOPARATHYROIDISM, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, AMYOTROPHIC LATERAL SCLEROSIS 19, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, SPINOCEREBELLAR ATAXIA 15, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, GLANZMANN THROMBASTHENIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, CRANIOFRONTONASAL DYSPLASIA, PITUITARY DEPENDENT HYPERCORTISOLISM, PARKINSON DISEASE 1, CATSHL SYNDROME, NEUROFIBROMATOSIS, TYPE 1, NOONAN SYNDROME 9, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, BARAITSER-WINTER SYNDROME 2, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ANGELMAN SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, RHEUMATOID ARTHRITIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, ALTERNATING HEMIPLEGIA OF CHILDHOOD, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, AMYLOIDOSIS, FINNISH TYPE, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, TUBEROUS SCLEROSIS 2, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, WAARDENBURG SYNDROME, TYPE 3, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, LEGIUS SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, PARKINSON DISEASE 4, POLYCYTHEMIA VERA, SOMATIC, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, HYPERTENSION AND BRACHYDACTYLY SYNDROME, CORPUS CALLOSUM, PARTIAL AGENESIS OF, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COFFIN-SIRIS SYNDROME 1, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, APERT SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, MYHRE SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, MUENKE SYNDROME, TANGIER DISEASE, BECKER MUSCULAR DYSTROPHY, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, WAARDENBURG SYNDROME, TYPE 1, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, FOCAL CORTICAL DYSPLASIA, TAYLOR BALLOON CELL TYPE, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, HYPOCHONDROPLASIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, TUBEROUS SCLEROSIS-1, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, CHOROID PLEXUS PAPILLOMA, CLOVE SYNDROME, SOMATIC, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SMITH-KINGSMORE SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, WATSON SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, SHORT SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, NOONAN SYNDROME 7, CROUZON SYNDROME, MACROCEPHALY/AUTISM SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, X-LINKED 90, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, NEUROFIBROMATOSIS, TYPE 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, HYPOPARATHYROIDISM FAMILIAL ISOLATED, MASA SYNDROME, CRASH SYNDROME, ALEXANDER DISEASE, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, LEOPARD SYNDROME 1, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?MYOPATHY, SCAPULOHUMEROPERONEAL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, TSC2, F2, SPRY4, HSPB1, ACTB, GNAS, ANK2, AGT, GFAP, ATP1A2, PRKAR1A, CSNK1D, ITGA2B, UBE2A, IL17RD, HNRNPK, FGA, PLAU, B2M, FGF17, CDKN2A, FGF3, NF1, RAB7A, SPTAN1, PIK3CA, BMP4, KCNQ2, PDGFRB, ADCY6, GNAI2, IL2RG, DYNC2H1, SF3B4, PTEN, ACTA1, ACE, NF2, PLEC, ERBB3, IL10, MAP2K2, PSMB8, IGF2, SQSTM1, NOTCH1, TNF, MTOR, FGFR1, LEP, AKT2, SPRED1, CBL, SMARCE1, CCND1, PTH, JAK2, PDE3A, ITPR1, T, PCNA, GRIN2A, RPS6KA3, GLUD1, ADCY5, BRAF, INS, NFKB2, SOS2, APP, ITGB3, GJA1, SHOC2, EP300, SMAD4, SPTBN2, PAX2, HLA-DRB1, DMD, PPP2R1A, GRIN2B, HES7, FGF20, PLK4, AKT1, CCND2, KRAS, VCP, APOA1, TP53, UBE3A, NEFL, SLC25A4, PPP2R5D, EZH2, SNCA, UBQLN2, PRKCG, EFNB1, AKAP9, ERBB4, FGFR3, MUSK, GSN, RUNX2, NRAS, DLG3, NGF, UBB, PTS, PAX3, ACTG1, CSF1R, PIK3R2, NTRK1, PTPN11, JAK3, FIBP, TGFB1, DISC1, ESR1, PRKACA, INSR, NOS3, AKT3, PDGFB, SOS1, KARS, FGFR2, DUSP6, PDGFRA, L1CAM, BDNF, CLASP1, POLR1C, SYNGAP1, CTLA4, HRAS, NR3C1, HSPG2, TSC1, PIK3R1, SHH

BARAITSER-WINTER SYNDROME 1, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, SPINOCEREBELLAR ATAXIA 5, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ACHONDROPLASIA, PITUITARY DEPENDENT HYPERCORTISOLISM, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, SPINOCEREBELLAR ATAXIA 14, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, CAMURATI-ENGELMANN DISEASE, LEOPARD SYNDROME 3, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, TRIGONOCEPHALY 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, PSEUDOHYPOPARATHYROIDISM IA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 11, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, PSEUDOPSEUDOHYPOPARATHYROIDISM, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, AMYOTROPHIC LATERAL SCLEROSIS 19, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, SPINOCEREBELLAR ATAXIA 15, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, GLANZMANN THROMBASTHENIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, CRANIOFRONTONASAL DYSPLASIA, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, PARKINSON DISEASE 1, CATSHL SYNDROME, NEUROFIBROMATOSIS, TYPE 1, NOONAN SYNDROME 9, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, BARAITSER-WINTER SYNDROME 2, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ANGELMAN SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, RHEUMATOID ARTHRITIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, ALTERNATING HEMIPLEGIA OF CHILDHOOD, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, AMYLOIDOSIS, FINNISH TYPE, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, TUBEROUS SCLEROSIS 2, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, WAARDENBURG SYNDROME, TYPE 3, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, LEGIUS SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, PARKINSON DISEASE 4, POLYCYTHEMIA VERA, SOMATIC, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, HYPERTENSION AND BRACHYDACTYLY SYNDROME, CORPUS CALLOSUM, PARTIAL AGENESIS OF, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, CLOVE SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, APERT SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, MYHRE SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, MUENKE SYNDROME, TANGIER DISEASE, BECKER MUSCULAR DYSTROPHY, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, WAARDENBURG SYNDROME, TYPE 1, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, FOCAL CORTICAL DYSPLASIA, TAYLOR BALLOON CELL TYPE, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, HYPOCHONDROPLASIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, TUBEROUS SCLEROSIS-1, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, CHOROID PLEXUS PAPILLOMA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ERYTHROCYTOSIS, FAMILIAL, 2, SMITH-KINGSMORE SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, WATSON SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, SHORT SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, NOONAN SYNDROME 7, CROUZON SYNDROME, MACROCEPHALY/AUTISM SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, X-LINKED 90, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, NEUROFIBROMATOSIS, TYPE 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, HYPOPARATHYROIDISM FAMILIAL ISOLATED, MASA SYNDROME, CRASH SYNDROME, ALEXANDER DISEASE, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, LEOPARD SYNDROME 1, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?MYOPATHY, SCAPULOHUMEROPERONEAL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, TSC2, USP8, F2, SPRY4, HSPB1, ACTB, GNAS, ANK2, AGT, GFAP, ATP1A2, PRKAR1A, CSNK1D, ITGA2B, UBE2A, IL17RD, HNRNPK, FGA, PLAU, B2M, FGF17, CDKN2A, FGF3, NF1, RAB7A, SPTAN1, PIK3CA, BMP4, KCNQ2, PDGFRB, ADCY6, GNAI2, IL2RG, DYNC2H1, SF3B4, PTEN, ACTA1, ACE, NF2, PPP2R5D, PLEC, ERBB3, IL10, MAP2K2, PSMB8, IGF2, SQSTM1, NOTCH1, TNF, MTOR, FGFR1, LEP, AKT2, SPRED1, CBL, SMARCE1, CCND1, PTH, JAK2, PDE3A, ITPR1, T, PCNA, GRIN2A, RPS6KA3, GLUD1, ADCY5, BRAF, INS, NFKB2, SOS2, APP, ITGB3, GJA1, SHOC2, EP300, SMAD4, SPTBN2, PAX2, HLA-DRB1, DMD, VHL, PPP2R1A, GRIN2B, HES7, FGF20, PLK4, AKT1, CCND2, KRAS, VCP, APOA1, TP53, UBE3A, NEFL, SLC25A4, PTS, EZH2, SNCA, UBQLN2, PRKCG, EFNB1, AKAP9, ERBB4, FGFR3, MUSK, GSN, RUNX2, NRAS, DLG3, NGF, UBB, STUB1, PAX3, ACTG1, CSF1R, PIK3R2, NTRK1, PTPN11, JAK3, FIBP, TGFB1, DISC1, TSC1, PRKACA, INSR, NOS3, AKT3, PDGFB, SOS1, KARS, FGFR2, DUSP6, PDGFRA, L1CAM, BDNF, CLASP1, POLR1C, SYNGAP1, CTLA4, HRAS, NR3C1, HSPG2, ESR1, PIK3R1, SHH

BARAITSER-WINTER SYNDROME 1, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, SPINOCEREBELLAR ATAXIA 5, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ACHONDROPLASIA, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, CAMURATI-ENGELMANN DISEASE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, TRIGONOCEPHALY 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, CORPUS CALLOSUM, PARTIAL AGENESIS OF, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, SPINOCEREBELLAR ATAXIA 15, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CRANIOFRONTONASAL DYSPLASIA, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, PARKINSON DISEASE 1, CATSHL SYNDROME, NOONAN SYNDROME 9, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, SHORT SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, RHEUMATOID ARTHRITIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, ALTERNATING HEMIPLEGIA OF CHILDHOOD, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, AMYLOIDOSIS, FINNISH TYPE, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, WAARDENBURG SYNDROME, TYPE 3, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, LEGIUS SYNDROME, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, PARKINSON DISEASE 4, POLYCYTHEMIA VERA, SOMATIC, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, ?DYSTONIA, JUVENILE-ONSET, DUCHENNE MUSCULAR DYSTROPHY, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COFFIN-SIRIS SYNDROME 1, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, APERT SYNDROME, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, MUENKE SYNDROME, BECKER MUSCULAR DYSTROPHY, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, WAARDENBURG SYNDROME, TYPE 1, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, BARAITSER-WINTER SYNDROME 2, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, HYPOCHONDROPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, NEUROFIBROMATOSIS, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, CHOROID PLEXUS PAPILLOMA, CLOVE SYNDROME, SOMATIC, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, AMYOTROPHIC LATERAL SCLEROSIS 19, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, NOONAN SYNDROME 7, CROUZON SYNDROME, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, X-LINKED 90, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, NEUROCUTANEOUS MELANOSIS, SOMATIC, LEOPARD SYNDROME 3, MASA SYNDROME, CRASH SYNDROME, ALEXANDER DISEASE, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, LEOPARD SYNDROME 1, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?MYOPATHY, SCAPULOHUMEROPERONEAL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, F2, SPRY4, HSPB1, ACTB, AGT, GFAP, ATP1A2, SNCA, ITGA2B, UBE2A, IL17RD, FGA, PLAU, UBB, CDKN2A, FGF3, NF1, RAB7A, SPTAN1, PIK3CA, BMP4, PDGFRB, IL2RG, SF3B4, MUSK, ACTA1, ACE, PLEC, ERBB3, IL10, MAP2K2, PSMB8, IGF2, NOS3, FGFR1, LEP, FGF17, JAK2, CBL, SMARCE1, CCND1, PTH, SPRED1, ITPR1, PCNA, GRIN2A, RPS6KA3, GLUD1, DUSP6, BRAF, INS, DMD, SOS2, GRIN2B, ITGB3, GJA1, SHOC2, SMAD4, SYNGAP1, PAX2, HLA-DRB1, NFKB2, PPP2R1A, HES7, FGF20, PLK4, AKT1, CCND2, KRAS, VCP, KARS, NEFL, HNRNPK, EZH2, CSNK1D, UBQLN2, KCNQ2, EFNB1, AKAP9, ERBB4, FGFR3, GSN, RUNX2, NRAS, DLG3, NGF, PPP2R5D, PAX3, ACTG1, CSF1R, NTRK1, PTPN11, JAK3, TGFB1, DISC1, ANK2, INSR, NOTCH1, PDGFB, SOS1, TP53, FGFR2, PDGFRA, L1CAM, BDNF, APP, SPTBN2, HRAS, HSPG2, ESR1, PIK3R1, SHH

BARAITSER-WINTER SYNDROME 1, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, SPINOCEREBELLAR ATAXIA 5, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ACHONDROPLASIA, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, CAMURATI-ENGELMANN DISEASE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, TRIGONOCEPHALY 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, CORPUS CALLOSUM, PARTIAL AGENESIS OF, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, SPINOCEREBELLAR ATAXIA 15, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CRANIOFRONTONASAL DYSPLASIA, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, PARKINSON DISEASE 1, CATSHL SYNDROME, NOONAN SYNDROME 9, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, SHORT SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, RHEUMATOID ARTHRITIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, ALTERNATING HEMIPLEGIA OF CHILDHOOD, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, AMYLOIDOSIS, FINNISH TYPE, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, WAARDENBURG SYNDROME, TYPE 3, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, LEGIUS SYNDROME, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, PARKINSON DISEASE 4, POLYCYTHEMIA VERA, SOMATIC, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, DUCHENNE MUSCULAR DYSTROPHY, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COFFIN-SIRIS SYNDROME 1, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, APERT SYNDROME, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, MUENKE SYNDROME, BECKER MUSCULAR DYSTROPHY, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, WAARDENBURG SYNDROME, TYPE 1, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, BARAITSER-WINTER SYNDROME 2, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, HYPOCHONDROPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, NEUROFIBROMATOSIS, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, CHOROID PLEXUS PAPILLOMA, CLOVE SYNDROME, SOMATIC, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, AMYOTROPHIC LATERAL SCLEROSIS 19, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, NOONAN SYNDROME 7, CROUZON SYNDROME, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, NEUROCUTANEOUS MELANOSIS, SOMATIC, LEOPARD SYNDROME 3, MASA SYNDROME, CRASH SYNDROME, ALEXANDER DISEASE, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, LEOPARD SYNDROME 1, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?MYOPATHY, SCAPULOHUMEROPERONEAL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, F2, SPRY4, HSPB1, ACTB, AGT, GFAP, ATP1A2, SNCA, ITGA2B, UBE2A, IL17RD, FGA, PLAU, UBB, CDKN2A, FGF3, NF1, RAB7A, SPTAN1, PIK3CA, BMP4, PDGFRB, IL2RG, SF3B4, MUSK, ACTA1, ACE, PLEC, ERBB3, CBL, MAP2K2, PSMB8, IGF2, NOS3, TNF, FGFR1, LEP, FGF17, JAK2, IL10, SMARCE1, CCND1, PTH, SPRED1, ITPR1, PCNA, GRIN2A, RPS6KA3, GLUD1, DUSP6, BRAF, INS, DMD, SOS2, GRIN2B, ITGB3, GJA1, SHOC2, SMAD4, SYNGAP1, PAX2, HLA-DRB1, NFKB2, PPP2R1A, HES7, FGF20, PLK4, AKT1, CCND2, KRAS, VCP, KARS, NEFL, HNRNPK, EZH2, CSNK1D, UBQLN2, KCNQ2, EFNB1, AKAP9, ERBB4, FGFR3, GSN, RUNX2, NRAS, NGF, PPP2R5D, PAX3, ACTG1, CSF1R, NTRK1, PTPN11, JAK3, TGFB1, DISC1, NOTCH1, PDGFB, SOS1, TP53, FGFR2, PDGFRA, L1CAM, BDNF, APP, SPTBN2, HRAS, HSPG2, ESR1, PIK3R1, SHH

BARAITSER-WINTER SYNDROME 1, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, SPINOCEREBELLAR ATAXIA 5, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ACHONDROPLASIA, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, CAMURATI-ENGELMANN DISEASE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, TRIGONOCEPHALY 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, CORPUS CALLOSUM, PARTIAL AGENESIS OF, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, SPINOCEREBELLAR ATAXIA 15, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CRANIOFRONTONASAL DYSPLASIA, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, PARKINSON DISEASE 1, CATSHL SYNDROME, NOONAN SYNDROME 9, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, SHORT SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, RHEUMATOID ARTHRITIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, ALTERNATING HEMIPLEGIA OF CHILDHOOD, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, AMYLOIDOSIS, FINNISH TYPE, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, WAARDENBURG SYNDROME, TYPE 3, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, LEGIUS SYNDROME, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, PARKINSON DISEASE 4, POLYCYTHEMIA VERA, SOMATIC, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, DUCHENNE MUSCULAR DYSTROPHY, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COFFIN-SIRIS SYNDROME 1, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, APERT SYNDROME, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, MUENKE SYNDROME, BECKER MUSCULAR DYSTROPHY, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, WAARDENBURG SYNDROME, TYPE 1, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, BARAITSER-WINTER SYNDROME 2, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, HYPOCHONDROPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, NEUROFIBROMATOSIS, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, CHOROID PLEXUS PAPILLOMA, CLOVE SYNDROME, SOMATIC, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, AMYOTROPHIC LATERAL SCLEROSIS 19, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, NOONAN SYNDROME 7, CROUZON SYNDROME, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, NEUROCUTANEOUS MELANOSIS, SOMATIC, LEOPARD SYNDROME 3, MASA SYNDROME, CRASH SYNDROME, ALEXANDER DISEASE, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, LEOPARD SYNDROME 1, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?MYOPATHY, SCAPULOHUMEROPERONEAL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, F2, SPRY4, HSPB1, ACTB, AGT, GFAP, ATP1A2, SNCA, ITGA2B, UBE2A, IL17RD, FGA, PLAU, UBB, CDKN2A, FGF3, NF1, RAB7A, SPTAN1, PIK3CA, BMP4, PDGFRB, IL2RG, SF3B4, MUSK, ACTA1, ACE, PLEC, ERBB3, CBL, MAP2K2, PSMB8, IGF2, NOS3, TNF, FGFR1, LEP, FGF17, JAK2, IL10, SMARCE1, CCND1, PTH, SPRED1, ITPR1, PCNA, GRIN2A, RPS6KA3, GLUD1, DUSP6, BRAF, INS, DMD, SOS2, GRIN2B, ITGB3, GJA1, SHOC2, SMAD4, SYNGAP1, PAX2, HLA-DRB1, NFKB2, PPP2R1A, HES7, FGF20, PLK4, AKT1, CCND2, KRAS, VCP, KARS, NEFL, HNRNPK, EZH2, CSNK1D, UBQLN2, KCNQ2, EFNB1, AKAP9, ERBB4, FGFR3, GSN, RUNX2, NRAS, NGF, PPP2R5D, PAX3, ACTG1, CSF1R, NTRK1, PTPN11, JAK3, TGFB1, DISC1, NOTCH1, PDGFB, SOS1, TP53, FGFR2, PDGFRA, L1CAM, BDNF, APP, SPTBN2, HRAS, HSPG2, ESR1, PIK3R1, SHH

BARAITSER-WINTER SYNDROME 1, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, SPINOCEREBELLAR ATAXIA 5, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ACHONDROPLASIA, PITUITARY DEPENDENT HYPERCORTISOLISM, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, MIRROR MOVEMENTS 1, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, SPINOCEREBELLAR ATAXIA 14, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, CAMURATI-ENGELMANN DISEASE, LEOPARD SYNDROME 3, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), PSEUDOHYPOPARATHYROIDISM IC, TRIGONOCEPHALY 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, PSEUDOHYPOPARATHYROIDISM IA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 11, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, PSEUDOPSEUDOHYPOPARATHYROIDISM, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, AMYOTROPHIC LATERAL SCLEROSIS 19, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, SPINOCEREBELLAR ATAXIA 15, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, GLANZMANN THROMBASTHENIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, CRANIOFRONTONASAL DYSPLASIA, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, PARKINSON DISEASE 1, CATSHL SYNDROME, NEUROFIBROMATOSIS, TYPE 1, NOONAN SYNDROME 9, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, BARAITSER-WINTER SYNDROME 2, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ANGELMAN SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, RHEUMATOID ARTHRITIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, ALTERNATING HEMIPLEGIA OF CHILDHOOD, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, AMYLOIDOSIS, FINNISH TYPE, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, TUBEROUS SCLEROSIS 2, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, WAARDENBURG SYNDROME, TYPE 3, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, LEGIUS SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, PARKINSON DISEASE 4, POLYCYTHEMIA VERA, SOMATIC, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, DUCHENNE MUSCULAR DYSTROPHY, SPINOCEREBELLAR ATAXIA 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, HYPERTENSION AND BRACHYDACTYLY SYNDROME, CORPUS CALLOSUM, PARTIAL AGENESIS OF, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COFFIN-SIRIS SYNDROME 1, WISKOTT-ALDRICH SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, APERT SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, MYHRE SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, MUENKE SYNDROME, TANGIER DISEASE, BECKER MUSCULAR DYSTROPHY, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, WAARDENBURG SYNDROME, TYPE 1, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, FOCAL CORTICAL DYSPLASIA, TAYLOR BALLOON CELL TYPE, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, HYPOCHONDROPLASIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, TUBEROUS SCLEROSIS-1, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, CHOROID PLEXUS PAPILLOMA, CLOVE SYNDROME, SOMATIC, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SMITH-KINGSMORE SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, WATSON SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, SHORT SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, NOONAN SYNDROME 7, CROUZON SYNDROME, MACROCEPHALY/AUTISM SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, X-LINKED 90, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, NEUROFIBROMATOSIS, TYPE 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, HYPOPARATHYROIDISM FAMILIAL ISOLATED, MASA SYNDROME, CRASH SYNDROME, ALEXANDER DISEASE, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, LEOPARD SYNDROME 1, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?MYOPATHY, SCAPULOHUMEROPERONEAL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, TSC2, F2, SPRY4, HSPB1, ACTB, GNAS, ANK2, AGT, GFAP, ATP1A2, PRKAR1A, CSNK1D, ITGA2B, UBE2A, IL17RD, HNRNPK, FGA, PLAU, B2M, FGF17, CDKN2A, FGF3, NF1, RAB7A, SPTAN1, PIK3CA, BMP4, KCNQ2, PDGFRB, ADCY6, GNAI2, IL2RG, DYNC2H1, SF3B4, PTEN, ACTA1, ACE, NF2, PLEC, ERBB3, IL10, MAP2K2, TBK1, PSMB8, IGF2, SQSTM1, NOTCH1, TNF, MTOR, FGFR1, LEP, AKT2, SPRED1, CBL, SMARCE1, CCND1, PTH, JAK2, PDE3A, ITPR1, GLUD1, T, PCNA, GRIN2A, RPS6KA3, WAS, ADCY5, BRAF, INS, NFKB2, SOS2, APP, ITGB3, GJA1, SHOC2, EP300, SMAD4, SPTBN2, PAX2, HLA-DRB1, DMD, PPP2R1A, GRIN2B, HES7, FGF20, PLK4, AKT1, CCND2, KRAS, VCP, ATXN1, APOA1, TP53, UBE3A, NEFL, SLC25A4, PPP2R5D, EZH2, SNCA, UBQLN2, PRKCG, EFNB1, AKAP9, ERBB4, FGFR3, MUSK, GSN, RUNX2, NRAS, DLG3, NGF, UBB, PTS, PAX3, ACTG1, CSF1R, PIK3R2, NTRK1, PTPN11, JAK3, FIBP, TGFB1, DISC1, TSC1, PRKACA, INSR, NOS3, AKT3, PDGFB, SOS1, KARS, FGFR2, DUSP6, PDGFRA, L1CAM, BDNF, CLASP1, POLR1C, SYNGAP1, CTLA4, HRAS, DCC, NR3C1, HSPG2, ESR1, PIK3R1, SHH

MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, JOUBERT SYNDROME 10, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, NEPHRONOPHTHISIS 15, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE, JOUBERT SYNDROME 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, ALSTROM SYNDROME, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, PERRY SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, ?SECKEL SYNDROME 6, CORPUS CALLOSUM AGENESIS, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, LISSENCEPHALY 4 (WITH MICROCEPHALY), AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMORAL DEMENTIA, OROFACIODIGITAL SYNDROME I, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, SECKEL SYNDROME 5, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, LEUKODYSTROPHY, HYPOMYELINATING, 6, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, ?MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE, MECKEL SYNDROME 4, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, JOUBERT SYNDROME 15, SENIOR-LOKEN SYNDROME 6, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, ?MICROHYDRANENCEPHALY, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, ?SECKEL SYNDROME 4, MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE, BARDET-BIEDL SYNDROME 16, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, LISSENCEPHALY 3

PAFAH1B1, TUBA1A, CEP135, PRKACA, CEP41, CEP63, TUBB, TUBA4A, PPP2R1A, CEP164, CEP290, PLK4, PCNT, CEP57, NDE1, CEP152, OFD1, DCTN1, CLASP1, TUBG1, CSNK1D, CDK5RAP2, AKAP9, ALMS1, SDCCAG8, TUBB4A, DYNC1H1, CENPJ

ADAMS-OLIVER SYNDROME 5, BARAITSER-WINTER SYNDROME 1, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, EXOSTOSES, MULTIPLE, TYPE 2, GALACTOSE EPIMERASE DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, CAMURATI-ENGELMANN DISEASE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, EXOSTOSES, MULTIPLE, TYPE 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, GALACTOSEMIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, GALACTOKINASE DEFICIENCY WITH CATARACTS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, ?DYSTONIA, JUVENILE-ONSET, KAHRIZI SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, OSTEOGENESIS IMPERFECTA, TYPE III, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, NONAKA MYOPATHY

MAN1B1, GPC3, SRD5A3, SLC26A2, CHST3, COL1A1, SDHD, MPI, PIGA, DPAGT1, B3GAT3, TGFB1, CHST14, NOS3, B4GALT1, DAG1, MGAT2, B4GALT7, PMM2, MOGS, ALG3, ALG11, NOTCH1, GALT, GFPT1, GALE, EXT1, GALK1, DPM1, ALG1, DPM2, ATP5A1, NEU1, ALG2, COL1A2, DOLK, MPDU1, GNE, ACTB, ALG6, RFT1, HSPG2, EXT2, ALG13, ATN1

ADAMS-OLIVER SYNDROME 5, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ

MAN1B1, MPDU1, MGAT2, ALG6, MOGS, RFT1, B4GALT1, ALG3, ALG11, DPAGT1, ALG2, ALG13, ALG1, NOTCH1